Research — GeneOps

rs104894008 — GCK Gly261Arg (MODY2)

Chromosome 7 Risk Allele T Category Blood Sugar & Diabetes Diabetes, Insulin, Metabolic, Genetic Counseling, Carrier Status, Energy Metabolism

Pathogenic glucokinase missense variant that nearly abolishes enzyme activity, causing autosomal dominant maturity-onset diabetes of the young type 2 (MODY2) in heterozygous carriers and permanent neonatal diabetes when homozygous

rs104894143 — CYP17A1 W406R (Trp406Arg)

Chromosome 10 Risk Allele G Category Reproductive Hormones Fertility, Reproductive Health, Steroid Hormones, Hormones, Congenital, Genetic Counseling

Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxylase/17,20-lyase activity; homozygotes develop 17α-hydroxylase deficiency (CAH) with absent sex steroids, primary amenorrhea, and mineralocorticoid excess; heterozygous carriers have subclinical steroid biosynthetic abnormalities and should undergo endocrinology evaluation

rs104894396 — GJB2 W24X

Chromosome 13 Risk Allele T Category Neurology & Cognition Hearing Loss, Sensorineural, Congenital, Carrier Status, Reproductive Health

Stop-gain mutation eliminating connexin 26 function; the most common GJB2 deafness allele in South Asian populations and the ancestral founder mutation carried into European Romani communities

rs104894805 — EMD Pro183His (P183H)

Chromosome X Risk Allele A Category Cardiomyopathy & Structural Heart Cardiovascular, Heart Disease, Muscle, Genetic Counseling, Carrier Status, Congenital

Pathogenic missense variant in emerin that weakens nuclear lamina interactions, causing X-linked Emery-Dreifuss muscular dystrophy with progressive cardiac conduction defects and cardiomyopathy

rs1050450 — GPX1 Pro198Leu

Chromosome 3 Risk Allele A Category Methylation & Detox Detoxification, Oxidative Stress, Selenium, Antioxidants, Cardiovascular, Glutathione, Glutathione Cycle, NRF2 Target

Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the Leu variant reduces enzyme activity and responsiveness to selenium

rs1058932 — CYP2C8

Chromosome 10 Risk Allele A Category Pharmacogenomics Drug Metabolism, Pharmacogenomics, Cardiovascular, Inflammation, Autoimmune

CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered epoxyeicosatrienoic acid metabolism and hydroxychloroquine-related renal adverse effects

rs10958409 — SOX17

Chromosome 8 Risk Allele A Category Vascular Inflammation & Remodeling Cardiovascular, Cerebrovascular, Endothelial Health, Angiogenesis, Blood Pressure, Inflammation

Intergenic variant near SOX17 at 8q11 that reduces expression of this endothelial transcription factor, increasing susceptibility to intracranial aneurysm and cerebrovascular instability.

rs11052552 — CLECL1

Chromosome 12 Risk Allele G Category Appetite & Obesity Type 1 Diabetes, Autoimmune, Immune & Autoimmune, Inflammation, Pancreatic Beta Cell, Immune Function

Intronic variant in CLECL1, a dendritic-cell costimulatory C-type lectin, associated with elevated type 1 diabetes risk via modulation of T-cell immune responses

rs11061937 — ADIPOR2 ADIPOR2 rs11061937

Chromosome 12 Risk Allele C Category Fat Storage & Energy Adipogenesis, Insulin Resistance, Cardiovascular, Fat Metabolism, Diabetes, Metabolic Health

Intronic ADIPOR2 variant associated with cardiovascular disease risk in individuals with impaired glucose tolerance, influencing adiponectin receptor 2 signaling and hepatic lipid and glucose metabolism

rs11204971 — FLG FLG locus regulatory variant

Chromosome 1 Risk Allele G Category Allergy & Atopic Disease Skin Health, Inflammation, Asthma, Food Sensitivity, Immune System, Autoimmune

Regulatory tag SNP in the filaggrin (FLG) locus associated with reduced FLG expression and elevated atopic dermatitis risk — strongly enriched in East Asian populations where the G allele reaches 57% frequency