rs1057517491

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1057517491(-;-)

Make rs1057517491(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

20189448

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs1057517491
dbSNP (classic)	rs1057517491
ClinGen	rs1057517491
ebi	rs1057517491
HLI	rs1057517491
Exac	rs1057517491
Gnomad	rs1057517491
Varsome	rs1057517491
LitVar	rs1057517491
Map	rs1057517491
PheGenI	rs1057517491
Biobank	rs1057517491
1000 genomes	rs1057517491
hgdp	rs1057517491
ensembl	rs1057517491
geneview	rs1057517491
scholar	rs1057517491
google	rs1057517491
pharmgkb	rs1057517491
gwascentral	rs1057517491
openSNP	rs1057517491
23andMe	rs1057517491
SNPshot	rs1057517491
SNPdbe	rs1057517491
MSV3d	rs1057517491
GWAS Ctlg	rs1057517491

Max Magnitude

0

ClinVar
Risk	rs1057517491(-;-)
Alt	rs1057517491(-;-)
Reference	Rs1057517491(G;G)
Significance	Probable-Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a
Reversed	1
HGVS	NC_000013.10:g.20763587delC
CLNSRC
CLNACC	RCV000409450.1, RCV000410947.1,