Tag

Hearing Loss

18 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	Hearing Loss	Established
rs10514168	TSHZ1	Intergenic variant downstream of TSHZ1, a transcription factor essential for ...	Neurology & Cognition	Hearing Loss	Strong
rs137853096	HSD17B4 Gly16Ser	Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting...	Metabolic Enzymes & Rare Disorders	Hearing Loss	Established
rs1978060	TBX1	Intronic variant in TBX1 acting as a cis-eQTL that reduces TBX1 expression an...	Innate Immunity & Infection Defense	Hearing Loss	Moderate
rs137853097	HSD17B4 N457Y	Missense variant in the enoyl-CoA hydratase domain of D-bifunctional protein;...	Metabolic Enzymes & Rare Disorders	Hearing Loss	Established
rs2251780	GSR	Intronic variant in the glutathione reductase gene affecting antioxidant defe...	Vitamins & Nutrient Absorption	Hearing Loss	Emerging
rs2531693353	HSD17B4 c.715-1G>A (splice acceptor)	Rare splice acceptor variant disrupting intron 9 of D-bifunctional protein; b...	Metabolic Enzymes & Rare Disorders	Hearing Loss	Established
rs137853000	TMPRSS3 p.Arg216Leu (R216L)	Pathogenic missense variant at the TMPRSS3 autocatalytic cleavage site causin...	Neurology & Cognition	Hearing Loss	Strong
rs397514538	SLC52A2	Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) cau...	Vitamins & Nutrient Absorption	Hearing Loss	Established
rs181949335	TMPRSS3 p.Ala306Thr (A306T)	Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain;...	Neurology & Cognition	Hearing Loss	Strong
rs73015965	PLG Lys38Glu (K38E)	Missense variant in plasminogen that reduces fibrinolytic activity and impair...	Innate Immunity & Infection Defense	Hearing Loss	Strong
rs35887622	GJB2 M34T	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Hearing Loss	Established
rs45598239	TMPRSS3	Near-gene variant tagging the TMPRSS3 hearing loss locus on chromosome 21, as...	Neurology & Cognition	Hearing Loss	Moderate
rs72474224	GJB2 V37I	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Hearing Loss	Established
rs727503493	TMPRSS3 c.208delC (p.His70Thrfs*19)	Frameshift deletion in TMPRSS3 causing premature stop at codon 88; a severe p...	Neurology & Cognition	Hearing Loss	Strong
rs80338939	GJB2 35delG	The most common cause of autosomal recessive nonsyndromic hearing loss in Eur...	Neurology & Cognition	Hearing Loss	Established
rs80338942	GJB2 167delT	The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% ...	Neurology & Cognition	Hearing Loss	Established
rs80338943	GJB2 c.235delC	Frameshift deletion eliminating connexin 26 function; the most common GJB2 de...	Neurology & Cognition	Hearing Loss	Established