rs371024165

Orientation

plus

Stabilized

plus

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

Make rs371024165(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

20189488

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs371024165
dbSNP (classic)	rs371024165
ClinGen	rs371024165
ebi	rs371024165
HLI	rs371024165
Exac	rs371024165
Gnomad	rs371024165
Varsome	rs371024165
LitVar	rs371024165
Map	rs371024165
PheGenI	rs371024165
Biobank	rs371024165
1000 genomes	rs371024165
hgdp	rs371024165
ensembl	rs371024165
geneview	rs371024165
scholar	rs371024165
google	rs371024165
pharmgkb	rs371024165
gwascentral	rs371024165
openSNP	rs371024165
23andMe	rs371024165
SNPshot	rs371024165
SNPdbe	rs371024165
MSV3d	rs371024165
GWAS Ctlg	rs371024165

Max Magnitude

3

ClinVar
Risk	rs371024165(A;A)
Alt	rs371024165(A;A)
Reference	Rs371024165(G;G)
Significance	Probable-Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	0
HGVS	NC_000013.10:g.20763627G>A
CLNSRC
CLNACC	RCV000169075.2,