rs80338946

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	3	Carrier of a recessive deafness mutation
(T;T)	0	common in clinvar

Make rs80338946(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189243

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs80338946
dbSNP (classic)	rs80338946
ClinGen	rs80338946
ebi	rs80338946
HLI	rs80338946
Exac	rs80338946
Gnomad	rs80338946
Varsome	rs80338946
LitVar	rs80338946
Map	rs80338946
PheGenI	rs80338946
Biobank	rs80338946
1000 genomes	rs80338946
hgdp	rs80338946
ensembl	rs80338946
geneview	rs80338946
scholar	rs80338946
google	rs80338946
pharmgkb	rs80338946
gwascentral	rs80338946
openSNP	rs80338946
23andMe	rs80338946
SNPshot	rs80338946
SNPdbe	rs80338946
MSV3d	rs80338946
GWAS Ctlg	rs80338946

Max Magnitude

3

ClinVar
Risk	rs80338946(G;G)
Alt	rs80338946(G;G)
Reference	Rs80338946(T;T)
Significance	Pathogenic
Disease	Deafness Keratitis-Ichthyosis-Deafness Syndrome Nonsyndromic Hearing Loss Mutilating keratoderma Hystrix-like ichthyosis with deafness Nonsyndromic Hearing Loss
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Keratitis-Ichthyosis-Deafness Syndrome Nonsyndromic Hearing Loss, Recessive Mutilating keratoderma Hystrix-like ichthyosis with deafness Nonsyndromic Hearing Loss, Dominant
Reversed	1
HGVS	NC_000013.10:g.20763382A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020568.2, RCV000269032.1, RCV000309050.1, RCV000357520.1, RCV000363717.1, RCV000404004.1,

[PMID 16380907] GJB2 mutations and degree of hearing loss: a multicenter study.