rs771748289

Orientation

plus

Stabilized

plus

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

Make rs771748289(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

20188986

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs771748289
dbSNP (classic)	rs771748289
ClinGen	rs771748289
ebi	rs771748289
HLI	rs771748289
Exac	rs771748289
Gnomad	rs771748289
Varsome	rs771748289
LitVar	rs771748289
Map	rs771748289
PheGenI	rs771748289
Biobank	rs771748289
1000 genomes	rs771748289
hgdp	rs771748289
ensembl	rs771748289
geneview	rs771748289
scholar	rs771748289
google	rs771748289
pharmgkb	rs771748289
gwascentral	rs771748289
openSNP	rs771748289
23andMe	rs771748289
SNPshot	rs771748289
SNPdbe	rs771748289
MSV3d	rs771748289
GWAS Ctlg	rs771748289

Max Magnitude

3

ClinVar
Risk	rs771748289(A;A)
Alt	rs771748289(A;A)
Reference	Rs771748289(G;G)
Significance	Probable-Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	0
HGVS	NC_000013.10:g.20763125G>A
CLNSRC
CLNACC	RCV000169613.1,