rs786204734

Orientation

minus

Stabilized

minus

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

Make rs786204734(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

20192783

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs786204734
dbSNP (classic)	rs786204734
ClinGen	rs786204734
ebi	rs786204734
HLI	rs786204734
Exac	rs786204734
Gnomad	rs786204734
Varsome	rs786204734
LitVar	rs786204734
Map	rs786204734
PheGenI	rs786204734
Biobank	rs786204734
1000 genomes	rs786204734
hgdp	rs786204734
ensembl	rs786204734
geneview	rs786204734
scholar	rs786204734
google	rs786204734
pharmgkb	rs786204734
gwascentral	rs786204734
openSNP	rs786204734
23andMe	rs786204734
SNPshot	rs786204734
SNPdbe	rs786204734
MSV3d	rs786204734
GWAS Ctlg	rs786204734

Max Magnitude

3

ClinVar
Risk	rs786204734(T;T)
Alt	rs786204734(T;T)
Reference	Rs786204734(G;G)
Significance	Probable-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.20766922C>A
CLNSRC
CLNACC	RCV000169581.1, RCV000220459.1,