rs80338950

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	4	Deafness mutation (dominant)
(G;G)	0	common in clinvar

Make rs80338950(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189031

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs80338950
dbSNP (classic)	rs80338950
ClinGen	rs80338950
ebi	rs80338950
HLI	rs80338950
Exac	rs80338950
Gnomad	rs80338950
Varsome	rs80338950
LitVar	rs80338950
Map	rs80338950
PheGenI	rs80338950
Biobank	rs80338950
1000 genomes	rs80338950
hgdp	rs80338950
ensembl	rs80338950
geneview	rs80338950
scholar	rs80338950
google	rs80338950
pharmgkb	rs80338950
gwascentral	rs80338950
openSNP	rs80338950
23andMe	rs80338950
SNPshot	rs80338950
SNPdbe	rs80338950
MSV3d	rs80338950
GWAS Ctlg	rs80338950

Max Magnitude

4

OMIM	121011
Desc
Variant	0008
Related	also

ClinVar
Risk	rs80338950(A;A) rs80338950(C;C)
Alt	rs80338950(A;A) rs80338950(C;C)
Reference	Rs80338950(G;G)
Significance	Other
Disease	Deafness Nonsyndromic hearing loss and deafness Hearing impairment not provided
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a Hearing impairment not provided
Reversed	1
HGVS	NC_000013.10:g.20763170C>G; NC_000013.10:g.20763170C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018531.31, RCV000211781.1, RCV000022511.28, RCV000146024.1, RCV000480903.1,

[PMID 9336442] Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

[PMID 14735592] Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness.

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