rs730880338

Orientation

minus

Stabilized

minus

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

Make rs730880338(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

20189312

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs730880338
dbSNP (classic)	rs730880338
ClinGen	rs730880338
ebi	rs730880338
HLI	rs730880338
Exac	rs730880338
Gnomad	rs730880338
Varsome	rs730880338
LitVar	rs730880338
Map	rs730880338
PheGenI	rs730880338
Biobank	rs730880338
1000 genomes	rs730880338
hgdp	rs730880338
ensembl	rs730880338
geneview	rs730880338
scholar	rs730880338
google	rs730880338
pharmgkb	rs730880338
gwascentral	rs730880338
openSNP	rs730880338
23andMe	rs730880338
SNPshot	rs730880338
SNPdbe	rs730880338
MSV3d	rs730880338
GWAS Ctlg	rs730880338

Max Magnitude

3

c.269dupT (p.Val91Serfs)

ClinVar pathogenic/likely pathogenic for deafness, DFNB1A

ClinVar
Risk	rs730880338(T;T)
Alt	rs730880338(T;T)
Reference	Rs730880338(-;-)
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.20763452dupA
CLNSRC
CLNACC	RCV000154347.4, RCV000211771.1,