Tag

Sensorineural

15 genetic variants with this tag.

RSID	Gene	Description	Category
rs1017861	CHD7 CHD7 AIS susceptibility locus	Intronic variant in CHD7, a chromatin remodeler critical for neural crest cel...	Innate Immunity & Infection Defense	Sensorineural	Moderate
rs104894396	GJB2 W24X	Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea...	Neurology & Cognition	Sensorineural	Established
rs148234606	SLC52A2 Leu339Pro	Pathogenic missense variant in the riboflavin transporter RFVT2 that abolishe...	Vitamins & Nutrient Absorption	Sensorineural	Established
rs2251780	GSR	Intronic variant in the glutathione reductase gene affecting antioxidant defe...	Vitamins & Nutrient Absorption	Sensorineural	Emerging
rs137853000	TMPRSS3 p.Arg216Leu (R216L)	Pathogenic missense variant at the TMPRSS3 autocatalytic cleavage site causin...	Neurology & Cognition	Sensorineural	Strong
rs181949335	TMPRSS3 p.Ala306Thr (A306T)	Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain;...	Neurology & Cognition	Sensorineural	Strong
rs2153535	BLOC1S5	Regulatory variant near MUTED/BLOC1S5, a gene whose mouse homolog controls ot...	Neurology & Cognition	Sensorineural	Strong
rs35887622	GJB2 M34T	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Sensorineural	Established
rs45598239	TMPRSS3	Near-gene variant tagging the TMPRSS3 hearing loss locus on chromosome 21, as...	Neurology & Cognition	Sensorineural	Moderate
rs61759167	PRDM16	Intronic PRDM16 variant reaching genome-wide significance in the first motion...	Neurology & Cognition	Sensorineural	Strong
rs72474224	GJB2 V37I	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Sensorineural	Established
rs727503493	TMPRSS3 c.208delC (p.His70Thrfs*19)	Frameshift deletion in TMPRSS3 causing premature stop at codon 88; a severe p...	Neurology & Cognition	Sensorineural	Strong
rs80338939	GJB2 35delG	The most common cause of autosomal recessive nonsyndromic hearing loss in Eur...	Neurology & Cognition	Sensorineural	Established
rs80338942	GJB2 167delT	The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% ...	Neurology & Cognition	Sensorineural	Established
rs80338943	GJB2 c.235delC	Frameshift deletion eliminating connexin 26 function; the most common GJB2 de...	Neurology & Cognition	Sensorineural	Established