rs80338941

Orientation

minus

Stabilized

minus

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

Make rs80338941(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189526

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs80338941
dbSNP (classic)	rs80338941
ClinGen	rs80338941
ebi	rs80338941
HLI	rs80338941
Exac	rs80338941
Gnomad	rs80338941
Varsome	rs80338941
LitVar	rs80338941
Map	rs80338941
PheGenI	rs80338941
Biobank	rs80338941
1000 genomes	rs80338941
hgdp	rs80338941
ensembl	rs80338941
geneview	rs80338941
scholar	rs80338941
google	rs80338941
pharmgkb	rs80338941
gwascentral	rs80338941
openSNP	rs80338941
23andMe	rs80338941
SNPshot	rs80338941
SNPdbe	rs80338941
MSV3d	rs80338941
GWAS Ctlg	rs80338941

Max Magnitude

3

ClinVar
Risk	rs80338941(C;C) rs80338941(T;T)
Alt	rs80338941(C;C) rs80338941(T;T)
Reference	Rs80338941(G;G)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763665C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020575.2,

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