rs80338945

Orientation

minus

Stabilized

minus

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

Make rs80338945(C;C)

Reference

GRCh38 38.1/142

Chromosome

13

Position

20189313

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs80338945
dbSNP (classic)	rs80338945
ClinGen	rs80338945
ebi	rs80338945
HLI	rs80338945
Exac	rs80338945
Gnomad	rs80338945
Varsome	rs80338945
LitVar	rs80338945
Map	rs80338945
PheGenI	rs80338945
Biobank	rs80338945
1000 genomes	rs80338945
hgdp	rs80338945
ensembl	rs80338945
geneview	rs80338945
scholar	rs80338945
google	rs80338945
pharmgkb	rs80338945
gwascentral	rs80338945
openSNP	rs80338945
23andMe	rs80338945
SNPshot	rs80338945
SNPdbe	rs80338945
MSV3d	rs80338945
GWAS Ctlg	rs80338945

Max Magnitude

3

OMIM	121011
Desc
Variant	0016
Related	also

ClinVar
Risk	rs80338945(C;C)
Alt	rs80338945(C;C)
Reference	Rs80338945(T;T)
Significance	Pathogenic
Disease	Deafness not provided Hearing impairment Nonsyndromic hearing loss and deafness Horseshoe kidney Omphalocele Short palpebral fissure
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A not provided Hearing impairment Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a Horseshoe kidney Omphalocele Short palpebral fissure
Reversed	1
HGVS	NC_000013.10:g.20763452A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018541.33, RCV000080369.3, RCV000146013.2, RCV000211772.1, RCV000409625.1, RCV000415167.1,

[PMID 11313763] Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

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

[PMID 14985372] A genotype-phenotype correlation for GJB2 (connexin 26) deafness.