rs786204491

Orientation

minus

Stabilized

minus

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

Make rs786204491(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

20189291

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs786204491
dbSNP (classic)	rs786204491
ClinGen	rs786204491
ebi	rs786204491
HLI	rs786204491
Exac	rs786204491
Gnomad	rs786204491
Varsome	rs786204491
LitVar	rs786204491
Map	rs786204491
PheGenI	rs786204491
Biobank	rs786204491
1000 genomes	rs786204491
hgdp	rs786204491
ensembl	rs786204491
geneview	rs786204491
scholar	rs786204491
google	rs786204491
pharmgkb	rs786204491
gwascentral	rs786204491
openSNP	rs786204491
23andMe	rs786204491
SNPshot	rs786204491
SNPdbe	rs786204491
MSV3d	rs786204491
GWAS Ctlg	rs786204491

Max Magnitude

3

ClinVar
Risk	rs786204491(A;A)
Alt	rs786204491(A;A)
Reference	Rs786204491(-;-)
Significance	Probable-Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763431dupT
CLNSRC
CLNACC	RCV000169160.1,