rs397516874

Orientation

minus

Stabilized

minus

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

Make rs397516874(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

20189212

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs397516874
dbSNP (classic)	rs397516874
ClinGen	rs397516874
ebi	rs397516874
HLI	rs397516874
Exac	rs397516874
Gnomad	rs397516874
Varsome	rs397516874
LitVar	rs397516874
Map	rs397516874
PheGenI	rs397516874
Biobank	rs397516874
1000 genomes	rs397516874
hgdp	rs397516874
ensembl	rs397516874
geneview	rs397516874
scholar	rs397516874
google	rs397516874
pharmgkb	rs397516874
gwascentral	rs397516874
openSNP	rs397516874
23andMe	rs397516874
SNPshot	rs397516874
SNPdbe	rs397516874
MSV3d	rs397516874
GWAS Ctlg	rs397516874

Max Magnitude

3

ClinVar
Risk	rs397516874(T;T)
Alt	rs397516874(T;T)
Reference	Rs397516874(C;C)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000013.10:g.20763351G>A
CLNSRC	ClinVar
CLNACC	RCV000037846.4, RCV000211777.1,