rs80338948

Orientation

minus

Stabilized

minus

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

Make rs80338948(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189155

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs80338948
dbSNP (classic)	rs80338948
ClinGen	rs80338948
ebi	rs80338948
HLI	rs80338948
Exac	rs80338948
Gnomad	rs80338948
Varsome	rs80338948
LitVar	rs80338948
Map	rs80338948
PheGenI	rs80338948
Biobank	rs80338948
1000 genomes	rs80338948
hgdp	rs80338948
ensembl	rs80338948
geneview	rs80338948
scholar	rs80338948
google	rs80338948
pharmgkb	rs80338948
gwascentral	rs80338948
openSNP	rs80338948
23andMe	rs80338948
SNPshot	rs80338948
SNPdbe	rs80338948
MSV3d	rs80338948
GWAS Ctlg	rs80338948

GMAF

0.0004591

Max Magnitude

3

OMIM	121011
Desc
Variant	0009
Related	also

ClinVar
Risk	rs80338948(T;T)
Alt	rs80338948(T;T)
Reference	Rs80338948(C;C)
Significance	Pathogenic
Disease	Deafness Hearing impairment Nonsyndromic hearing loss and deafness not provided
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Hearing impairment Nonsyndromic hearing loss and deafness not provided
Reversed	1
HGVS	NC_000013.10:g.20763294G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018533.28, RCV000146023.1, RCV000211779.1, RCV000255157.1,

[PMID 9471561] Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.

[PMID 12457154] Selection for deafness?

[PMID 10633133] Prevalent connexin 26 gene (GJB2) mutations in Japanese.

[PMID 10982180] Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

[PMID 11556849] Connexin 26 studies in patients with sensorineural hearing loss.

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