AA in COMT's Val/Met variation, meaning Met/Met , or worrier , lower activity of the COMT enzyme. Since COMT enzyme's main function is the breakdown of dopamine, this leads to increased dopamine levels, advantages in attention tasks and motivation.
TT in rs4633, higher levels of the COMT protein and higher pain sensitivity - worrier
TT in COMT's rs4646312, slightly lower odds of schizophrenia
GG in COMT's rs6267, which is the typical for most humans and leads to slightly lower risk of Schizophrenia
AA in COMT's rs165599 variation, which leads to a decreased risk of Schizophrenia and Bipolar disorder.
AA in rs3027452, lowest transcription rates in the Central Nervous System - lower activity of MAOB. Tryptophan less effective for depression.
CC in MAOB's rs1799836; Lower odds of ADHD, Parkinson's, One study found higher odds of Schizophrenia
TT in MAOA's rs6323, leading to lower activity of the MAOA enzyme and slower breakdown of dopamine, thus higher dopamine levels and certain advantages in attention tasks.
Less D2 dopamine receptors 16.438 %.
Intermediate number of D2 dopamine receptors 41.096 %.
Higher number of D2 dopamine receptors 42.466 %.
GG, which means no derived No-Go Learner variants in DRD2's Pro319Pro variation, which means a higher number of D2 receptor sites in the brain, and a higher likelihood of schizophrenia
GG in rs6279 of DRD2, higher odds for Schizophrenia and less resistence to pain
AA in DRD2's rs6275 variation, meaning increased number of dopamine D2 receptors and a higher risk of Schizophrenia.
CC in DRD2's rs2514218, higher odds of Schizophrenia
GG genotype in rs4648317 of DRD2, which is the typical genotype for most humans, and leads to a slightly lower risk of Schizophrenia and nicotine dependence.
GG in Taq1 variation of DRD2, which is the typical for most humans leading to a slightly higher number of D2 dopamine receptors, and to a slightly lower risk of ADHD and Alcoholism.
CT in DRD2's rs12363125, one allele for higher odds of cocaine abuse and migraine risk
GG in DRD2's rs6589377, lower odds of neuroticism, higher odds for nicotine dependence.
CC in rs1076560 of DRD2, which is the typical for most humans leading to a slightly higher number of D2 dopamine receptors and better memory performance.
CC in rs5326 of DRD1, which is the typical for most humans and leads to a slightly lower risk of various mental health conditions.
AA in rs686 of Dopamine Receptor D1 gene, which leads to a higher likelyhood of Autism.
TT in rs4532 of DRD1, a typical associated with slightly higher odds of Autism and tobacco addiction.
TT in DRD1's rs4867798, part of a haplotype for reduced risk of schizophrenia according to 2014 study
AG in DRD1's rs265974, average odds of substance use disorders, risk allele is G.
TT in rs6280 of DRD3, a typical associated with a slightly lower risk of OCD and intellectual disability.
AA in DRD3's rs167771 variation, mostly a Eurasian genotype , increases the risks of autism and autistic personality traits such as rigid behavior.
AA in DRD3's rs963468, higher odds of schizophrenia, uncommon genotype (doesn't play a role in the polygenic risk score calculation).
No risk variants for mental retardation in DRD4's rs752306 (CC)
TT in rs1800955 of DRD4, a typical associated with lower odds of intellectual disability and ADHD
AG in DRD4's rs936461, intermediate odds of schizophrenia (risk allele is A) and intermediate odds of eating disorder (risk allele is G).
CC in DRD5's rs6283. Higher odds of ADHD; mechanism of action is not exactly known
Lower levels of 5-HT (Serotonin) 56.250 %.
Intermediate levels of 5-HT (Serotonin) 37.500 %.
Higher levels of 5-HT (Serotonin) 6.250 %.
AA in rs6313 of HTR2A, Higher odds for a variety of mental health conditions, highest odds of suicidal ideation
GG in HTR2A's rs2070040, G allele is associated with lower resistance to stress, irritability, and agressive behavior.
GG in HTR2A's rs4142900, G allele is associated with higher antisocial behavior and impulsivity
AA in rs1545843, associated with higher risk for major depression, but only in individuals less than 55 years old
AA in rs17144465, typical (lower) depression risk.
GG in ESRRG's rs2377360, higher odds of depression
TT in rs364477, reduced odds of unipolar depression
TT in rs9834970 of TRANK1, below average odds of Bipolar disorder and Schizophrenia
TT in DISC1 rs1411771, somewhat lower odds of bipolar and schizophrenia (does not play a role in polygenic risk scores)
GG in rs75459873, no risk variants for psychosis in MIR378F. Very typical genotype.
Heterozygous at ADCY2 gene. Associated with bipolar disorder.
AA in ADCY2's rs17826816, lower(typical) odds for bipolar disorder.
CC in rs267606861, common in clinvar, no tourette
AA in rs11074889, Much higher odds of ADHD
Results Mental Health - Autism Only
Higher Odds of Autism 35.135 %.
Intermediate Odds of Autism37.838 %.
Lower Odds of Autism27.027 %.
CT in rs4307059, 1.19x risk of Autism
TT in rs10513025, typical , normal (higher) risk of autism.
AA in rs7794745, slightly decreased risk of autism.
AA in rs1858830, normal (lower) autism risk.
CC in rs1804197, common genotype. Normal (lower) risk of autism.
AA in rs2217262, typical genotype. Average (higher) risk of autism.
GG in rs930707, typical (higher) Indoleacetate levels. Indoleacetate is a tryptophan derivative and lower levels of indoleacetate are linked with depressive symptoms.
CC in rs921451, lower tendency to smoke heavily if is a smoker.
TT in rs1451371, More likely to smoke heavily if is a smoker.
AA in rs2060762, lower tendency to smoke heavily if is a smoker.
Results For Lactose Persistence
AG in MCM6's rs4988235 variation, which means this individual is hetyerozygous for the European lactose persistence mutation and is probably not lactose intolerant.
CC in MCM6's rs182549, This Individual does not have any derived variants for European lactose persistence.
AA in rs41380347, NOT carrier of the lactase persistence allele also known as "-13915*G", common in Arab populations
CC in rs2322659 of LCT, likely lactose persistent - C allele is not exclusive to Europeans
Higher Odds of Lactose Intolerance: 17.021 %.
Intermediate Odds of Lactose Intolerance: 42.553 %.
Lower Odds of Lactose Intolerance: 40.426 %.
Results for OXTR - The Empathy Gene
Lower Empathy 54.545 %.
Average Empathy 36.364 %.
Higher Empathy 9.091 %.
AA in OXTR's rs53576 variation, which means this individual has 2 sociopath variants for reduced OXTR expression and lack of empathy.
TT in rs237885, two 'sociopath' variants in OXTR.
TC in rs1042778 of OXTR, one 'sociopath' and one 'empath' allele, the empath allele is G
TT in OXTR's rs13316193, a associated with decreased OXTR expression and lower levels of empathy, as well as higher risk of autism spectrum disorder.
GG in OXTR's rs7632287 variation, which means this individual has 2 variants for lower levels of empathy at this variation.
AA in OXTR's rs237897, two sociopath variants in this OXTR variation. Most likely not sub saharan African.
Results for Diabetes
CC in rs6679677; normal(lower) risk for Rheumatoid Arthritis and Type 1 Diabetes
TT in rs7202877, slight decrease in risk of Type 1 Diabetes.
AA in rs17696736, slighly lower odds of type 1 Diabetes
GG in rs35011184, lower odds of Type 2 diabetes and obesity.
GG in rs17388568, normal (lower) odds of Type 1 Diabetes.
AC in rs9273363, which leads to a slight decrease in the risk of type 1 diabetes.
GG in rs7754840, which means this individual has two variants for lower odds of type 2 diabetes.
CC in rs7903146, a associated with lower risk of type 2 diabetes.
Results for Hemochromatosis
GG in HFE's Cys282Tyr variation, which means this individual is not a carrier for the C282Y hemochromatosis mutation.
CC in HFE's His63Asp, which means this individual does not have any H63D variants and most likely doesn't have hemochromatosis.
AA in HFE's S65C variation, which means that this individual does not carry any risk variants for hemochromatosis.
Results for Alzheimers
CC in rs429358, 2 risk alleles for Alzheimers in this APOE variation, 12 to 61 times higher odds of Alzheimers than average.
AG in PLD3's rs145999145 variation, which means this individual has a higher risk of Alzheimers.
CC in rs669, which leads to increased risk of Alzheimers.
AG in TOMM40's rs2075650, higher odds of Alzheimer's disease.
CC in rs75932628, normal (Slightly lower) risk of Alzheimer's disease
CC in rs63750847, no variants for reduced risk of Alzheimer's disease. Normal (Higher) odds of Alzheimers
Multiple sclerosis
(Linked) likely no HLA-DRB1*1501 alleles, typical , normal (lower) risk for MS. Lower (typical) odds for narcolepsy as well.
No risk variants in HLA-DQA1; lower risk of MS
0 risk variants for MS in HLA-DRB1. Typical
AG in rs4959039, 1 (common) risk variant for MS.
Cardio-Vascular Disease Panel
AA in rs662799, normal (Lower odds of heart attack and obesity)
GG in rs602633, 0 risk variants for Coronary Heart Disease (Odds ratio = 1.11 for every T allele). common genotype.
GG in rs700651, ~20% higher risk of brain aneurysm, risk allele is G
GG in rs10958409, normal (lower) risk of brain aneurysm, risk allele is A
CC in rs1333040, lower odds of brain aneurysm and heart attack, risk allele is T.
GG in rs9298506, much lower risk of aneurysm, uncommon genotype.
CC in rs6475606, much lower risk of Coronary artery disease.
CC in rs10757272, Normal (lower) risk for Coronary artery disease.
CC in rs9315204, lower risk of aneurysm, common genotype.
AA in rs2383206, normal(lower) risk of heart disease.
AA in rs10757278, 0.78x reduced risk for Coronary Heart Disease. 0.77x reduced risk for Brain Aneurysm and Abdominal Aortic Aneurysm..
CC in rs1800787, not a carrier of risk variants for carotid arthery disease (T).
GG in rs5082, Reduced risk of heart disease.
AG in rs17576, average odds of heart attack and lung cancer.
Asthma + Epilepsy Panel
CC in rs7216389, 0.69x lower risk of Childhood Asthma
GG in rs1695, 3.5x asthma risk in certain populations
TT in rs10030601, below average odds of epilepsy
CC in rs10496964, typical (higher) odds of epilepsy
AA in rs7587026, 1.42x the odds of epilepsy
AA in rs12059546, lower (typical) odds of epilepsy
GG in rs72823592, 1.3x odds of epilepsy
Myopia Panel (Ordered from highest to lowest impact)
GG in rs12193446, which leads to significantly lower risk of myopia and greater quality of eyesight.
AC in rs7744813, which leads to a slight increase in the risk of myopia.
AT, or heterozygous in rs524952, which means a slightly decreased risk of myopia.
CC in rs4803455, two alleles for increased Myopia risk.
GG in RBFOX1's rs17648524, two alleles that protect against myopia.
Facial Morphology Panel
AA genotype in EDAR's rs3827760, Likely no shovel shaped incissors and not East Asian in ancestry
GG in rs6542787, no European EDAR alleles. Likely not a European
AA genotype in EDAR's rs260690, European facial traits. Very uncommon genotype for East Asians. Typical for Europeans.
TT in rs892540, shorter midface length
CT in rs4648379, intermediate nose size.
Likely higher nasolabial angle (nose pointing up) based on DCHS2 genotype
TT in rs12651896, slightly thinner eyebrows
AG in rs7702108, intermediate eyebrow thickness
Miscellaneous
(Don't voice this in video!!) CC in rs9332964, no micropenis.
TT in rs10784502, smaller cranium and lower IQ.
TT in rs28379706, lower IQ.
GG in rs324640, 8 points higher IQ than individuals with 'AA' .
TT in rs1815739, Impaired muscle performance. Likely endurance athlete.
AT , 1 'fat gene' variant in FTO's rs9939609. Higher odds of obesity and sleep apnea.
TT in rs10427255, likely does not have photic sneeze reflex.
GG in SCN9A rs6746030 variation, no variants for increased pain sensitivity.
TT, no MYBPC2 mental retardation variants, likely healthy.
AA genotype in EDAR's rs3827760, Likely no shovel shaped incissors and not East Asian in ancestry
AA genotype in EDAR's rs260690, European facial traits. Very uncommon genotype for East Asians. Typical for Europeans.
GG in rs671 variation, Not an Asian flusher, lower odds of Alcoholism. Normal risk of Esophageal Cancer.
GG in rs1080066, much larger brain volume. Very rare
CC in rs6265, higher odds of obesity and major depressive disorder
Drug Responce
Risk of Heart Failure Due to Beta Blocker Medications is 0.626 times the average.
When treated with metoprolol
Relative to AA in rs1801252 & GG in rs1801253 Genotypes :
rs1801252(A;A) and rs1801253(C;C) carriers: 15 point drop in Blood Pressure rs1801252(A;G) and rs1801253(C;C) carriers: 9 point drop in Blood Pressure rs1801252(A;A) and rs1801253(C;G) carriers: 6 point drop in Blood Pressure rs1801252(A;G) and rs1801253(C;G) carriers: 1 point drop in Blood Pressure
Your genotypes are : AA in rs1801252 &
CC in EGFR's rs2293347, among NSCLC patients, better Gefitinib response; common
AA in CYP2C9's rs1057910, normal; no effect on warfarin metabolism
GG in rs3745274, no increased risk when taking efavirenz for HIV treatment
AA in rs28399433, No Reduced CYP2A6 metabolism and no impaired nicotine metabolism - typical genotype
AA in rs1801272, no reduced CYP2A6 metabolism, no impaired nicotine metabolism, typical genotype
CC in CYP1A2's rs28399424, Good, normal CYP1A2 activity
CC in CYP1A2's rs12720461, Good, normal CYP1A2 activity
GG in rs4986893, no CYP2C19*3 allele (Good)
GG in rs4244285, normal in CYP2C19 (Good) no issues metabolizing antidepressants, mephenytoin, or Plavix
GG in CYP2D6's rs1065852, NOT carrier for CYP2D6 decreased or non-functioning variants (good)
TT in rs4363657, lower(typical) myopathy risk for statin users
AA in rs637644, lower odds of hair loss from chemotherapy.
AG in rs594206, 1 allele for lower odds of hair loss from chemotherapy (G). ⚠
CC in rs2298383, increased anxiety in response to caffeine. ⚠
AA in rs762551, Faster caffeine metabolism in smokers and heavy coffee consumers ⚠
CC in rs1467558, lower (normal) risk of liver toxicity from acetominophen/tylenol/APAP
CC in rs10156191 of AOC1, normal (increased) DOA activity, normal genotype. Tolerates NSAIDs.
CC in rs12476047. 200 to 500 % inreased odds of parkinson's symptoms when treated with antipsychotics ⚠
TT in rs5092, more likely to gain weight if taking olanzapine. ⚠
CC in rs4765623, significantly more likely to gain weight if taking olanzapine. ⚠
GG in rs518147, significantly higher odds of weight gain if taking olanzapine. ⚠
CT in AKT1's rs2494732, slightly increased odds of Cannabis induced psychosis. ⚠
AG in rs2241802, average odds of methamphatamine induced psychosis. ⚠
CG in rs135745, slightly higher susceptibility to methamphetamine induced psychosis. ⚠
AA in rs12591257, no protection from Methamphetamine induced psychosis ⚠
Albinism & Atypical Traits Panel
CC in OCA2's rs121918166, Not Carrier of an oculocutaneous Albinism Type II mutation.
AA in TYR's rs28940881 variation, which means this individual does not have any Tyrosinase-negative oculocutaneous albinism mutations.
AA in TYR's rs28940878 variation, which means this individual does not have any Tyrosinase-negative oculocutaneous albinism mutations.
TT in rs61754381, which means not a carrier for 1B Tyrosinase-negative oculocutaneous albinism.
CC in TYR's rs104894313, Not Carrier of an oculocutaneous Albinism Type 1B mutation.
CC in TYRP1's rs104894130, which means this individual lacks variants for Oculocutaneous albinism type 3, and is not albino.
CC in rs987525, which leads to decreased risk of cleft lip and palate.
CC in TYRP1's rs387907171, not a Carrier of melanesian blond hair variants.
Familiar Mediterranean Fever Panel
0 risk variants in rs104895094.
0 risk variants in rs11466023
0 risk variants in rs61752717
0 risk variants in rs28940579.
0 risk variants in rs28940578.
0 risk variants in rs61732874.
0 risk variants in rs104895083.
0 risk variants in rs104895081
0 risk variants in rs104895157
0 risk variants in rs11466024
0 risk variants in rs11466026
0 risk variants in rs79681911
0 risk variants in rs4149584
MTHFR panel
GG in MTHFR's rs1801133, normal homocysteine levels, good . Slightly lower than average odds for a variety of illnesses from autism to coronary heart disease.
AA in rs17367504, common , average (higher) blood pressure.
GG in rs2066470, typical genotype.
Cancers Panel
Highest Odds of Epithelial Cancers: 3.571 %.
Intermediate (slightly higher) Odds of Epithelial Cancers: 42.857 %.
Lower (typical) Odds of Epithelial Cancers: 53.571 %.
Glioma
TT in 8q24 rs4295627, lower odds of glioma development
GG in EGFR's rs11979158, some protection from glioma.
CC in EGFR's rs2252586, lower (average) odds of glioma
GG in rs498872, slightly below average odds of glioma (normal).
GG in rs4977756, 1.93x higher risk for glioma development
GG in rs6010620, 1.4x higher risk for glioma development; but this is the common allele. 1.4x higher risk for atopic dermatitis in Han Chinese
Prostate
GG in rs1859962, higher odds of prostate cancer.
CT in HOXB13's rs138213197, Significantly (3-7x) higher risk for prostate cancer in men
No rare variant for prostate cancer
CC in 8q24 rs16901979, no risk alleles for prostate cancer (Good)
Breast - BRCA
0 risk variants in Q356R of BRCA1
0 risk variants in S1140G of BRCA1
0 risk variants in K1183R of BRCA1
0 risk variants in S1613G of BRCA1
1 risk variant in N289H of BRCA2.
0 risk variants in N372H of BRCA2
CC in rs1042522 of TP53. Uncommon genotype. Live 3 years longer. Chemotherapy is more effective.
TT in rs1801155, average (lower) risk of colon cancer
0 risk variants in S707P
Testicular - KITLG
GG in rs995030, common , slightly higher risk of testicular cancer.
Other Cancers
AA in AURKA's rs2273535, slightly lower (normal) odds for various cancers
GG in Estrogen Receptor 1 Gene's -351A>G variation. Women have 10x risk of Endometriosis, but half the risk of Endometrial Cancer and 0.76x less cognitive impairment.
GG in EGFR rs763317, lower(typical) risk of lung cancer
CT in rs710521, Normal risk of developing bladder cancer. Risk allele is T
CC in rs798766, Lower (normal) risk of developing urinary bladder cancer.
AG in rs1800629, 1.3-2.6x odds of lymphoma, increased odds for a variety of other illnesses, risk variant is A.
TNF Risk Variants for Lymphoma: 1 Out of 4 variants found in file in total Risk variants in : rs1800629(1) Presence of Any risk variants are a concern
Thyroid Cancer
AG in rs1867277, 1.5x increased risk for thyroid cancer.
GG in rs965513, normal(lower thyroid cancer risk).
CC in rs944289, lower thyroid cancer risk
CC in rs966423, Possible elevated thyroid cancer risk
CG in rs2439302, slightly below average odds of thyroid cancer. Risk allele for thyroid cancer is G
Leukemia Panel
no NQO1*3 alleles, average odds of leukemia.
TT in rs4132601, common -> lower risk of leukemia.
TT in rs7089424, common/normal and lower risk of Leukemia.
AA in rs2239633, lower odds of leukemia (~0.7x).
GG in rs662463, common , lower odds of leukemia.
Rare diseases/traits Panel
GG in rs75801644, 0 risk variants for endometriosis.
No rare variant for prostate cancer
AA in F9 rs137852229, not a Carrier of a Hemophilia B mutation - 0 risk variants
TT in rs9540294, average (lower) odds of Recalcitrant atopic dermatitis
CC in rs41280169, 0 risk variants for panic disorder (very common genotype)
No predisposition to hemoglobin E disease, TT in rs2071348
CC in rs119478057, no predidposition to Hypercarotenemia and vitamin a deficiency
GG in rs387906725, no Lesch-nyhan syndrome.
GG in rs28942100, not a Carrier of a alkaptonuria mutation - 0 risk variants
TT in rs121434622, no Fragile X syndrome
CC in rs199473058, no Brugada Syndrome
GG in rs121434528, 0 risk alleles for Thoracic aortic aneurysm and dissection
GG in rs61816761, normal (no dermatitis)
GG in rs893818, lower odds of exfoliation glaucoma.
AG in rs3825942, possibly lower glaucoma risk.
CC in rs28936694, no Primary open-angle glaucoma
AA in rs16863657, lower odds of neural tube defects, typical genotype.
GG in rs80338794, not a Finnish major Salla disease mutation carrier - 0 risk variants.
0 variants for Ehlers-Danlos syndrome; CC in rs28937869
Found 0 risk variants for Holoprosencephaly in GLI2. Very typical/common genotype
Typical genotype, no Holoprosencephaly-3 risk variants in SSH
GG in rs34536443, typical (lower) odds of tuberculosis infection, common genotype
CC in rs2200733, 0.86x decreased risk of Atrial Fibrillation
GG in rs10033464, 0.92x decreased risk of Atrial Fibrillation and cardioembolic stroke.
AA in rs660895, decreased risk of rheumatoid arthritis. Slightly decreased risk of IgA nephropathy - a disease in which IgA protein builds up in and damages the filtering part of the kidney (glomerulus)
CC in rs7743761, Normal (lower) risk of Ankylosing Spondylitis.
TT in rs6457617, 5.2x risk of rheumatoid arthritis and 1.5x risk of systemic sclerosis, very uncommon genotype.
GG in rs11090865, common in clinvar, no risk variants for deafness.
CC in rs13078881, has Biotinidase deficiency.
TT in rs6151429, healthy
TT in rs4794067; Lower risk of Aspirin Induced Asthma. Normal (higher) risk of lupus and intractable Grave's Disease.
CC in rs10156191 of AOC1, normal (increased) DOA activity, normal genotype. Tolerates NSAIDs.
GG in rs104894637 - not a carrier for Sanfilippo syndrome risk
CC in rs104894635, no risk variants for Sanfilippo syndrome
No von Gierke's disease. CC in Arg83Cys of glucose-6-phosphatase G6PC gene.
GG in Cys1036Phe of BLM, not a carrier of variants for Bloom syndrome.
AT, or heterozygous in rs12150220, slightly increased risk for several autoimmune diseases including Addison's disease.
CC in rs1800546, normal.
AA in rs3764147, 0 risk variants for leprosy.
AA in rs11606250, very uncommon (Good) , 0.19x lower risk for certain autoimmune diseases
AC, 1 risk variant (C) in rs2302009. Higher odds of eosinophilic esophagitis
Celiac Disease Panel
average, no HLA-DRB1*0301 alleles, normal risk of celiac disease and lupus.
no HLA-DQ8 haplotype, normal (lower) risk of Celiac disease.
No risk variants in CCR3
GG in rs13119723, highest risk for celiac disease. 2 risk variants
No risk variants in R262W
Allergies Panel
GG in rs62623409, typical odds of allergic sensitivity
GG in rs2367563, lower odds of allergic skin reaction to nickel.
TT in rs2155219, 2 alleles for higher odds of allergies. Odds Ratio for every T allele = 1.18
GT in rs7192, somewhat (1.7x) increased risk of developing a peanut allergy. Risk variant is T.
TT in rs9275596, lower risk of peanut allergy. Risk allele is C.
Androgen Receptor Gene (AR) Panel
GG in rs6152, typical (higher) odds of baldness.
CC in rs137852591, very typical ; no Androgen insensitivity.
GG in rs9332969, normal , no Reifenstein syndrome.
GG in rs9332971, normal , no Reifenstein syndrome.
Crohn's Disease Panel
CC in NOD2's Arg702Trp. Typical (lower) risk for Crohn's disease.
Canavan Syndrome Panel
AA in rs63751297, 0 risk variants.
0 risk variants in Y231X.
0 risk variants in A305E.
0 risk variants in E285A.
If you have more than 0 risk variants for Canavan syndrome, that is cause for concern. May be the result of genotyping errors depending on the chip you tested with.
HIV & AIDS Panel
HIV does not develop and transition into AIDs the same way with every organism. Some are predisposed to larger viral load and quicker compromisation of the immune system while others are more resistant.
AG in rs2572886, 1 risk variant for increased susceptibility to AIDs and higher HIV viral load (Bad, uncommon).
HLA Gene Panel
The HLA genes are located on chromosome 6 in humans and encode proteins called human leukocyte antigens (HLAs). These proteins play a vital role in immune responses by presenting antigens to immune cells, specifically T cells. There are two main classes of HLA proteins: class I and class II.
The HLA system plays a critical role in several medical contexts, including organ transplantation, where matching HLA types between donor and recipient is crucial to minimize the risk of rejection. Additionally, HLA genes are associated with susceptibility to certain autoimmune diseases, infectious diseases, and drug hypersensitivity reactions, making them important targets for medical research and personalized medicine.
Here is a list of conditions affected by, and predicted by this Panel: Rheumatoid arthritis, systemic lupus erythematosus (SLE), type 1 diabetes mellitus, multiple sclerosis (MS), Sjögren's syndrome, inflammatory bowel disease (IBD) – Crohn's disease and ulcerative colitis, celiac disease, ankylosing spondylitis, systemic sclerosis, psoriasis, Graves' disease, Hashimoto's thyroiditis, Addison's disease, vitiligo, myasthenia gravis, primary biliary cholangitis, autoimmune hepatitis Susceptibility or severity of certain viral infections (e.g., HIV, hepatitis B and C), some bacterial infections (e.g., leprosy, tuberculosis) Food allergies (e.g., peanut allergy, milk allergy), Allergic rhinitis (hay fever), Atopic dermatitis (eczema), Asthma Allograft rejection, Preeclampsia, and Certain neurological disorders (e.g., narcolepsy)
Highest odds of Autoimmune Disease 13.333 %
Intermediate (Slightly higher) Odds of Autoimmune Disease 38.667 %
Lower Odds of Autoimmune Disease 48.000 %.
MTRR Gene Panel
GG in rs1801394, 1.4x higher risk for meningiomas and neural tube defects. 2 risk alleles for disorders of Intracellular Cobalamin Metabolism
CC in rs10380, lower odds of pancratic cancer; 0 risk alleles for disorders of Intracellular Cobalamin Metabolism
AA in rs162036, no risk variants for spina bifida & Disorders of Intracellular Cobalamin Metabolism.
CC in rs2287780, no risk variants for Disorders of Intracellular Cobalamin Metabolism
TT in rs2303080, 0 risk alleles for disorders of Intracellular Cobalamin Metabolism
GG in rs1802059, 0 risk alleles for disorders of Intracellular Cobalamin Metabolism
CT in CBS's rs234709, slightly decreased homocysteine levels
Predisposed to lower levels -0.02 µmol/L decrease of Plasma homocysteine, TT in rs2851391
homocystinuria Panel
We found Risk variants in : rs781444670(2) and a total of 2 risk variants for homocystinuria in CBS gene out of 24 variants identified in your file in total.
Elevated homocysteine levels 10.000 %
Intermediate homocysteine levels 50.000 %
Lower homocysteine levels 40.000 %.
Muscular Dystrophy Myopathies
0 risk variants in rs121913574
0 risk variants for Duchenne muscular dystrophy in rs1800278
0 risk variants in rs28937904
0 risk variants in rs28928901
0 risk alleles in rs2296949
0 risk variants in rs193922094
Found : 0 risk variants for adrenoleukodystrophy out of 32 Total
If you have risk variants here, it is most likely caused by miscalls in your raw data.
Since ADL is an X-linked condition, males can not be carriers. If you are male over the age of 20 and see risk variants here, it is due to miscalls. Otherwise you would be dead.
Colorblindness Panel
0 risk variants in OPN1LW out of 4
0 risk variants in OPN1MW out of 0
3 risk variants in OPN1SW out of 8
FTO Gene Panel
Higher Odds of Obesity 16.129 %.
Intermediate Odds of Obesity48.387 %.
Lower Odds of Obesity35.484 %.
Heterozygous in rs1421085, 1.3x higher risk of obesity
AG in rs9937053, slightly higher BMI
No fat gene variants in rs11642015, lower odds of obesity
AT , 1 'fat gene' variant in FTO's rs9939609. Higher odds of obesity and sleep apnea.
AA in rs9928094, lower odds of extreme obesity
Within PFKP Gene - also implicated in Obesity
AG in rs6602024, slightly higher BMI
Others also implicated in Obesity
AA in rs4994, typical genotype - lower odds of obesity.
CC in rs1799883, This genotype is not associated with increased sensitivity to saturated fats or refined carbohydrates.
TT in rs6232, lower risk of obesity and insulin sensitivity
Syncope Panel
A syncope, commonly known as fainting, is a temporary loss of consciousness and muscle tone caused by a brief reduction in blood flow to the brain. This sudden and temporary loss of consciousness typically results from a drop in blood pressure, leading to a momentary interruption of oxygen and nutrient supply to the brain. Syncope episodes are often brief, lasting only a few seconds to a couple of minutes, and individuals usually recover spontaneously once blood flow is restored. Various factors, such as dehydration, low blood sugar, or sudden changes in body position, can contribute to the occurrence of syncope.
AC in rs12465214 of ZNF804A, slightly decreased odds of Syncope (good allele is A). Odds ratio of ~0.98, this is the lowest pval (most statistically significant) snp for syncope risk
GG in rs1431318, ~7% decreased odds of syncope.
Used 6 snps in the following prediction
Syncope risk is 0.861 times the average
Bio Traits Panel
AA in MTR's rs1805087, decreased MTR activity and increased homocysteine levels (doesn't contribute to homocysteine panel score)
TT in rs174528, increased levels of omega 3 fatty acid, increased levels of docosahexaenoic acid
CC in rs1544410, Decreased risk of low bone mineral density disorders
GG in rs1051730, Smokes normal (lower) number of cigarettes if a smoker, reduced odds of lung cancer.
rs5443 (TT) are clearly at higher risk for hypertension, 2-3 fold more likely to be obese, rs5443(T;T) genotypes respond to Viagra better. rs5443(T;T) patients receiving clozapine over a long term for the treatment of schizophrenia gain significantly more weight (16%) compared to patients carrying at least one rs5443(C) allele in a study of Chinese patients. rs5443(T) carriers taking triptans for the treatment of migraines or cluster headaches were ~3 fold more likely to respond positively compared with rs5443(C;C) homozygotes (OR 2.96, CI:1.34 - 6.56, p=0.0074) in a study of ~200 Caucasian patients.
GG in CDH4's rs16985493, typical genotype associated with lower/average risk for migraine.
CT in rs11777116, uncommon genotype, significant increase in the odds of migraine - risk allele is T
TT in rs185819, ~30mm taller
CC in rs1042725, ~0.8cm taller height relative to TT genotype
TT in rs6060369, ~0.88cm shorter height relative to CC genotype
AA in rs10946808, taller.
GG in rs1800795, more IL6, significantly associated with type-2 diabetes (odds ratio 1.51)
AA in rs1380703, longer (typical) sleep duration
GG in rs66800491, lower (typical) odds of motion sickness (This is the variation with highest impact for motion sickness)
CC in rs2148710, lower predisposition to anger
Two copies of "farmer" CLTCL1 gene variant. has a selective advantage in processing carbohydrate-rich diets (presumably including those with lots of sugar)
CC in rs307377, common in complete genomics - no extraordinary tasting ability
AA in rs662799, normal (Lower odds of heart attack and obesity)
TT in rs27072, Lower risk of alcohol withdrawal seizures, and probably lower odds of ADHD.
GG in rs4481887, least likely to be able to smell asparagus metabolites in urine
AA in rs6591536, less able to detect β-ionone (floral) fragrance
GG in rs11800854, higher (typical) odds of periodontitis
GG in rs234706, no alleles for reduced odds of cleft palate
Age Related Macular Degeneration
GG in rs547154, no increased protection from Age-related maculopathy, most typical genotype.
AA in rs1061147, 2.76x increased risk for Age Related Macular Degeneration.
CC in rs1061170; 5.9x risk for AMD; higher mortality among nonagenarians
GG in rs380390, lower odds of AMD
CC in rs3793917, lower (typical) odds for AMD
GG in rs800292, 2x increased odds of Age-related macular degeneration (MTAG)
Cataracts Panel
GG in rs62621812, typical genotype, lower (typical) risk for cataracts.
AA in rs4814857,typical genotype, lower (0.96x) risk for cataracts
CC in rs8044853, ~1.3x higher odds of cataracts
GG in rs1929494, slightly reduced (~0.93x) risk for cataracts.
CC in rs926937, higher(typical) risk of cataract
Vitamins and Levels
TT in rs2282679 of GC gene, normal levels of Vitamin D.
AC in rs7041, one allele for reduced vit D levels (A), intermediate odds for COPD if you smoke - average levels of vitamin D ⚠
TG in rs12785878, likely lower levels of Vitamin D. ⚠
CC in rs7129781, higher odds of Vitamin D insufficiency ⚠
GG in rs6756629, associated with increased LDL levels, decreased HDL cholesterol levels, and increased triglyceride levels. ⚠
CC in rs560887, slightly higher blood sugar ⚠
CC in rs10047474, decreased blood pressure
GG in rs4961 (imputed through rs4963), lower blood pressure
GG in rs4895441, higher red blood cell count
TT in rs140522, higher red blood cell count
CC in rs1063739, protection of neurons against glutamate toxicity, increased (normal) rate of glutamate degradation
AA in rs602662, Higher vitamin B12 levels. 49.77 pg/ml increase per A allele relative to GG genotype
CC in rs34324219, higher (Typical) vitamin B12 levels.
CC in rs4654748, 1.45 ng/ml decrease in B6 levels ⚠
Predisposed to lower levels of Vitamin A/Retinol, CC in rs780093 ⚠
GG in rs11057830, lower(typical) levels of Vitamin E.⚠
GG in rs6862909, typical genotype, higher - typical Vitamin K levels
CC in rs964184, typical (lower) levels of vitamin K ⚠
CC in ARSD's rs1637781, higher Ascorbic acid 3-sulfate levels
DVT Panel
CC in rs11121615, higher odds of varicose veins. Highest pval and beta snp for this trait
AT in rs7654093, typical odds of deep vein thrombosis (risk allele is T)
GG in rs1799963, lower risk of deep vein thrombosis
GG in rs113092656, lower risk of deep vein thrombosis
AG in rs7025486, slight (1.2x) increase in risk for abdominal aortic aneurysm and some vascular disorders, risk allele is A
Blood Group Panel
CC in rs635634, higher odds for all blood types besides A. 0.92 accuracy
CT in rs8176720 possibly blood type A or O. 0.77 accuracy
TT in rs493014, no blood type B or AB. Accuracy 0.75.
AG in rs687289, possibly blood type AB. Accuracy 0.91
GG in rs8176746, likely not blood type AB. Accuracy 0.75.
TT in rs505922, Likely blood type O. 0.8 accuracy
CT in rs529565, possibly blood type O. 0.98 accuracy
AA in rs8176740, slightly lower odds of B and O blood types
GG in rs1053878, 0 alleles for cis-AB blood type, cis-AB blood type less likely.
Blood Type Likelyhood Distribution
Type O: 21.332 %
Type A: 32.673 %
Type B: 45.898 %
Type AB: 0.097 %
For multisample parsing
Expected level of Vitamin D
VK549_CombinedKit.txt most likely has -1.160 nmol/L + the average vitamin D levels for VK549_CombinedKit.txt's age bracket
Expected level of Cholesterol
VK549_CombinedKit.txt most likely has 4.202 mg/dL + the average LDL cholesterol levels for VK549_CombinedKit.txt's age bracket and activity level
VK549_CombinedKit.txt most likely has -1.000 mg/dL + the average HDL cholesterol levels for VK549_CombinedKit.txt's age bracket and activity level
VK549_CombinedKit.txt most likely has -1.290 mg/dL + the average glucose levels for VK549_CombinedKit.txt's age bracket and dietary habits
Expected level of HbA1c
VK549_CombinedKit.txt most likely has 4.999% HbA1c This value represents a genetic tendency or predisposition, and may be different depending on your diet.
VK549_CombinedKit.txt most likely has 70.253mmHg Diastolic Blood Pressure VK549_CombinedKit.txt most likely has 120.253mmHg Systolic Blood Pressure
Expected level of Iron in Blood
VK549_CombinedKit.txt most likely has 115.119 mcg/dL level of Iron in blood This value represents a genetic tendency or predisposition, and may be different depending on your diet and activity level.
Expected level of sex hormone binding globulin
VK549_CombinedKit.txt most likely has -0.969 nmol/L + average level of sex hormone binding globulin in blood This value represents a genetic tendency or predisposition, and may be different depending on your diet and activity level.
Expected level of red blood cells
VK549_CombinedKit.txt most likely has 0.087 ml/mcl + average level of Red blood cell count in blood This value represents a genetic tendency or predisposition, and may be different depending on your diet and activity level.
Expected Telomere Length
VK549_CombinedKit.txt most likely has 7899.000 base pairs - assuming you are a young adult (average for young adult is 8000 , with age that number decreases) This value represents a genetic tendency or predisposition, and may be different depending on your diet and activity level.
Expected Height
VK549_CombinedKit.txt most likely has 0.080cm + the average height for his/her gender (average for adult white male is 178cm and adult white female 165cm) This value represents a genetic tendency or predisposition, and may be different depending on your life circumstances.
Kidney Stones Risk Score
VK549_CombinedKit.txt has 0.884 times the average odds of kidney stones.
Erythema Nodosum Risk Score
VK549_CombinedKit.txt has 0.884 times the average odds of Erythema Nodosum. 5 SNPs were used in the calculation. Risk variants in : --common rs390966(2) ----common rs9405444(1) --
Hemoglobin E disease Risk Score
VK549_CombinedKit.txt has 0.426 times the average odds of hemoglobin E disease.
No risk variants found in file!
Migraine Risk Score
SNP Count: 10
VK549_CombinedKit.txt has 1.167 times the average odds of migraine.
Lupus Risk Score
SNP Count: 11
VK549_CombinedKit.txt has 1.085 times the average odds of lupus.
Gout Risk Score
VK549_CombinedKit.txt has 0.393 times the average odds of gout.
Eczema Panel
VK549_CombinedKit.txt has 0.917 times the average odds of eczema Risk variants in : --common rs479844(1) ----common rs6010620(2) --
Glaucoma Panel
VK549_CombinedKit.txt has 0.498 times the average odds of Exfoliation glaucoma. VK549_CombinedKit.txt has 1.120 times the average odds of pigmentary glaucoma. VK549_CombinedKit.txt has 0.670 times the average odds of open-Angle glaucoma. VK549_CombinedKit.txt has 0.683 times the average odds of Primary congenital glaucoma Risk variants for Congenital Glaucoma:
No risk variants found in file!
::: And the following risk variants for Pigmentary Glaucoma(the Rest can be found in your report's main page!) :Risk variants in : --common rs9641220(2) --
Risk score for PCOS
VK549_CombinedKit.txt has 0.889 times the average odds of polycystic ovary syndrome.
Risk score for Age Related Cataracts
SNP Count: 5
VK549_CombinedKit.txt has 1.182 times the average odds of cataracts.
Risk score for Age Related Macular Degeneration
VK549_CombinedKit.txt has 1.756 times the average odds of Age Related Macular Degeneration.
Risk score for Rheumatoid Arthritis
VK549_CombinedKit.txt has 0.954 times the average odds of Rheumatoid Arthritis.
Risk score for Tourettes
SNP Count: 6
VK549_CombinedKit.txt has 1.092 times the average odds of Tourette's
Risk score for Epilepsy
SNP Count: 5
VK549_CombinedKit.txt has 1.806 times the average odds of Epilepsy
Risk score for Asthma
SNP Count: 9
VK549_CombinedKit.txt has 1.000 times the average odds of Asthma
Risk score for Leukemia
VK549_CombinedKit.txt has 0.601 times the average odds of Leukemia
Risk score for Vitiligo
SNP Count : 7
VK549_CombinedKit.txt has 1.813 times the average odds of Vitiligo
Risk score for Myopia
VK549_CombinedKit.txt has 0.591 times the average odds of Myopia
Risk score for Corneal Astigmatism
VK549_CombinedKit.txt has 1.171 times the average odds of Corneal Astigmatism Risk variants in : rs3771395(2) rs6792584(1) rs7677751(1) rs485842(1)
Risk score for Primary biliary cirrhosis
VK549_CombinedKit.txt has 0.581 times the average odds of Primary biliary cirrhosis
No risk variants found in file!
Risk score for Ischemic stroke
VK549_CombinedKit.txt has 0.891 times the average odds of stroke
Risk score for Male Pattern Hair loss
VK549_CombinedKit.txt has 1.302 times the average odds of Male Pattern Hair loss (This number will be higher if you're European and lower if you're African or East Asian).
Risk score for Atrial Fibrillation
VK549_CombinedKit.txt has 0.757 times the average odds of Atrial Fibrillation Risk variants in : rs6843082(1)
Risk score for DVT (Deep vein thrombosis)
SNP Count: 3
VK549_CombinedKit.txt has 0.951 times the average odds of deep vein thrombosis.
Cardiovascular Issues Panel
VK549_CombinedKit.txt has 0.418 times the average odds of Cardio-Vascular Issues, which includes a range of issues such as:
Damage to blood vessel walls
Blood clots
Impaired blood flow
Heart disease
Peripheral artery disease (PAD)
Stroke
This score is calculated with regards to the results of the homocysteine and the cardiovascular panels.
VK549_CombinedKit.txt has 1.296 times the average odds of Unipolar Depression.
Risk score for Bipolar disorder type I
Risk variants for Schizophrenia (Also used in Bipolar 1 Polygenic risk score) found in: --DRD3 rs167771(2) -- rs683395(2) --ADCY2 rs13166360(1) ⚠----DRD1 rs686(2) ----DRD1 rs4532(2) ----DRD2 0 variants PROTECTIVE IN TAQ1 (bad) ----DRD2 rs6279(2) ----DRD2 rs6277(2) ⚠ ----DRD2 rs6275(2)----DRD2 rs1076560(2) ----DRD2 rs2514218(2) -- rs1006737(1) rs420259(2) + the following risk variants for Bipolar 1 but not for Schizophrenia were found in file: -- rs4027132(2)---- rs2953145(2) ⚠---- rs12202969(1)--
SNP Count: 37
VK549_CombinedKit.txt has 1.433 times the average odds of Bipolar disorder type I
Risk score for Schizophrenia
Risk variants for Schizophrenia (Also used in Bipolar 1 Polygenic risk score) found in: --DRD3 rs167771(2) -- rs683395(2) --ADCY2 rs13166360(1) ⚠----DRD1 rs686(2) ----DRD1 rs4532(2) ----DRD2 0 variants PROTECTIVE IN TAQ1 (bad) ----DRD2 rs6279(2) ----DRD2 rs6277(2) ⚠ ----DRD2 rs6275(2)----DRD2 rs1076560(2) ----DRD2 rs2514218(2) -- rs1006737(1) rs420259(2)
SNP Count: 28
VK549_CombinedKit.txt has 1.353 times the average odds of Schizophrenia for Northern Europeans
VK549_CombinedKit.txt has 0.720 times the average odds of Schizophrenia for Sub Saharan Africans
Risk score for Diabetes
SNP Count (T2D): 9 (T1D): 13
VK549_CombinedKit.txt has 1.713 times the average odds of Type 2 Diabetes
And VK549_CombinedKit.txt has 1.598 times the average odds of Type 1 Diabetes.
Risk variants in : --HLA rs9273363(1) ⚠--
Risk score for Alzheimers
VK549_CombinedKit.txthas 12.697 times the average odds of Alzheimers
Risk score for Multiple Sclerosis (It is typical for Europeans to score higher for MS relative to other world ethnicities)
VK549_CombinedKit.txt has 0.897 times the average odds of Multiple Sclerosis
Cancers section
VK549_CombinedKit.txt has 1 risk variants for breast cancer out of 20 Risk variants for Breast Cancer in : rs766173(1)
The "typical" score for a person is anywhere from 1/20th to 1/5th of the total number of breast cancer variants. So if a total of 20 variants were present in your file, having 1-4 risk variants is typical
VK549_CombinedKit.txt has 2.060 times the average odds of prostate cancer SNP Count: 9
VK549_CombinedKit.txt has 1.014 times the average odds of glioma (brain cancer)
VK549_CombinedKit.txt has 0.749 times the average odds of Thyroid Cancer.
Blood Cancers Panel -JAK2 Gene
VK549_CombinedKit.txt has 4 JAK2 risk variants out of 10 total found in file. Risk variants in : --common rs10974944(2) ----common rs4495487(1) ----common rs3780374(1) --
VK549_CombinedKit.txt has 11 risk variants for testicular cancer out of 20 Risk variants for testicular cancer in : rs2072499(2) rs3790672(1) rs3805663(2) rs4324715(2) rs210138(2) -- IMPORTANT rs995030(2), KITLG --
The "typical" score for a person is anywhere from 1/4 to 1/2 of the total number of testicular cancer variants. So if a total of 20 variants were present in your file, having 5-10 risk variants is typical
Celiac Disease section
VK549_CombinedKit.txt has2 risk variants for celiac disease out of 10
The "typical" score for a person is anywhere from 0 to 1/4 of the total number of celiac disease variants. So if a total of 12 variants were present in your file, 0 to 3 risk variants is typical. Risk variants in : rs13119723(2)
Gerstmann–Straussler–Scheinker syndrome section. (If you took MyHeritage, nothing relevant will be found in your file, sorry)
VK549_CombinedKit.txt has 0 risk variants for Gerstmann–Straussler–Scheinker syndrome out of 16
The "typical" score for Gerstmann–Straussler–Scheinker is 0. If you have more than 0 risk variants, that is cause for concern.
No risk variants found in file!
Crohn's Disease Risk Section
VK549_CombinedKit.txt has 4 risk variants for Crohn's Disease out of 24
Risk variants in : rs10210302(1) rs4958847(1) rs7753394(2)
The "typical" score for Crohn's disease is 1/10 to 2/10 of total variants found. If 20 variants were found in your file, typically 2 to 4 will be risk variants.
Reifenstein Syndrome Risk Section
VK549_CombinedKit.txt has 0 risk variants for Reifenstein's out of 18
If you have more than 0 risk variants, that is cause for concern.
No risk variants found in file!
Parkinson's Disease Risk Section
VK549_CombinedKit.txt has 1 risk variants for Parkinsons out of 38
Typical score is 0 risk variants. If you have more than 1 risk variants, that is cause for concern or could be caused by corrupted files. Risk variants in : rs119451946(1)
Gilbert Syndrome Risk Section
VK549_CombinedKit.txthas 2 risk variants for Gilbert syndrome out of 8 total. Any risk variants here should be taken seriously and examined, copy and search through the risk variants that show up in your file to make sure you arent scoring anything too severe. Risk variants in : --common rs4124874(2) --
Basal Cell Carcinoma Panel
VK549_CombinedKit.txt has 0 risk variants for Basal Cell Carcinoma out of 12 total.
No risk variants found in file!
Porphyria
VK549_CombinedKit.txt has 2 risk variants for Porphyria out of 20 total. Risk variants in : --Fairly common rs1131488(2) --
Peutz-Jeghers syndrome
VK549_CombinedKit.txt has 0 risk variants for Peutz-Jeghers out of 22 total.
No risk variants found in file!
Hypophosphatasia Panel
VK549_CombinedKit.txt has 2 risk variants for Hypophosphatasia out of 16 total. Risk variants in : rs34810399(2)
Jakob-Creutzfeldt disease Panel
VK549_CombinedKit.txt has 3 risk variants for JCD out of 14 total. Risk variants in : -- rs1799990(2) common -- rs74315408(1)
Waardenburg Syndrome Panel
VK549_CombinedKit.txt has 0 risk variants for Waardenburg Syndrome out of 6 total.
No risk variants found in file!
Allergies Panel
VK549_CombinedKit.txt has 8 risk variants for Allergies out of 22 total. Typical Score is around 1/3 risk variants out of total. Risk variants in : --common rs10497813(1) ----common rs7720838(2) ----common rs9266772(2) ----common rs9271588(1) ----common rs2155219(2) --
Familial hypertrophic cardiomyopathy
VK549_CombinedKit.txt has 0 risk variants for FHC out of 22 total.
No risk variants found in file!
Irritable Bowel Syndrome (IBS) Panel
VK549_CombinedKit.txt has 2 risk variants for IBS out of 8 total. Risk variants in : rs4663866(2)
Congenital Insensitivity to pain (congenital analgesia) Panel
VK549_CombinedKit.txt has 1 risk variants for congenital analgesia out of 6 total. Risk variants in : rs121908910(1)
Brugada syndrome panel
VK549_CombinedKit.txt has 3 risk variants for Brugada Syndrome out of 28 total. Risk variants in : --common rs1137617(1) ----common rs1051375(2) --
Treacher Collins syndrome panel
VK549_CombinedKit.txt has 2 risk variants for Treacher Collins Syndrome Type I out of 14 total. Risk variants in : --common rs15251(2) -- VK549_CombinedKit.txt has 1 risk variants for Treacher Collins Syndrome Type II out of 4 total. Risk variants in : --common rs7097(1) -- VK549_CombinedKit.txt has 2 risk variants for Treacher Collins Syndrome Type III out of 4 total. Risk variants in : --common rs1096699(2) --
Pfeiffer Syndrome panel
VK549_CombinedKit.txt has 0 risk variants for Pfeiffer Syndrome out of 8 total.
No risk variants found in file!
Beta Thalassemia panel
VK549_CombinedKit.txt has 0 risk variants for Beta Thalassemia out of 16 total.
No risk variants found in file
Familial thoracic aortic aneurysm (TAAD) panel
VK549_CombinedKit.txt has 2 risk variants for f-TAAD out of 42 total. Risk variants in : rs140587(2)
Myosclerosis panel
VK549_CombinedKit.txt has 2 risk variants for Myosclerosis out of 12 total. Risk variants in : --common rs1042917(2) --
Hirschsprung disease panel
VK549_CombinedKit.txt has 0 risk variants for Hirschsprung disease out of 10 total. Any number of risk variants here is a concern.
No risk variants found in file!
Fabry disease panel
VK549_CombinedKit.txt has 0 risk variants for Fabry disease out of 20 total. Any number of risk variants here is a concern.
No risk variants found in file!
Li-Fraumeni syndrome panel
VK549_CombinedKit.txt has 3 risk variants for Li-Fraumeni out of 22 total. Any number of risk variants here is a concern. Risk variants in : rs11540652(2) rs1800369(1)
