Tag
Hearing Loss
12 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs104894396 | GJB2 W24X | Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea... | Neurology & Cognition | Established | |
| rs10514168 | TSHZ1 | Intergenic variant downstream of TSHZ1, a transcription factor essential for ... | Neurology & Cognition | Strong | |
| rs137853096 | HSD17B4 Gly16Ser | Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting... | Metabolic Enzymes & Rare Disorders | Established | |
| rs2251780 | GSR | Intronic variant in the glutathione reductase gene affecting antioxidant defe... | Vitamins & Nutrient Absorption | Emerging | |
| rs1978060 | TBX1 | Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression an... | Innate Immunity & Infection Defense | Moderate | |
| rs397514538 | SLC52A2 | Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) cau... | Vitamins & Nutrient Absorption | Established | |
| rs137853000 | TMPRSS3 p.Arg216Leu (R216L) | Pathogenic missense variant at the TMPRSS3 autocatalytic cleavage site causin... | Neurology & Cognition | Strong | |
| rs73015965 | PLG Lys38Glu (K38E) | Missense variant in plasminogen that reduces fibrinolytic activity and impair... | Innate Immunity & Infection Defense | Strong | |
| rs181949335 | TMPRSS3 p.Ala306Thr (A306T) | Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain;... | Neurology & Cognition | Strong | |
| rs35887622 | GJB2 M34T | Connexin 26 missense variant causing partial loss of cochlear gap junction fu... | Neurology & Cognition | Established | |
| rs45598239 | TMPRSS3 | Missense variant tagging the TMPRSS3 hearing loss locus on chromosome 21, ass... | Neurology & Cognition | Moderate | |
| rs72474224 | GJB2 V37I | Connexin 26 missense variant causing partial loss of cochlear gap junction fu... | Neurology & Cognition | Established |