rs1057517508

Orientation

minus

Stabilized

minus

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

Make rs1057517508(-;-)

Make rs1057517508(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

20189068

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs1057517508
dbSNP (classic)	rs1057517508
ClinGen	rs1057517508
ebi	rs1057517508
HLI	rs1057517508
Exac	rs1057517508
Gnomad	rs1057517508
Varsome	rs1057517508
LitVar	rs1057517508
Map	rs1057517508
PheGenI	rs1057517508
Biobank	rs1057517508
1000 genomes	rs1057517508
hgdp	rs1057517508
ensembl	rs1057517508
geneview	rs1057517508
scholar	rs1057517508
google	rs1057517508
pharmgkb	rs1057517508
gwascentral	rs1057517508
openSNP	rs1057517508
23andMe	rs1057517508
SNPshot	rs1057517508
SNPdbe	rs1057517508
MSV3d	rs1057517508
GWAS Ctlg	rs1057517508

Max Magnitude

0

ClinVar
Risk	rs1057517508(-;-)
Alt	rs1057517508(-;-)
Reference	Rs1057517508(T;T)
Significance	Probable-Pathogenic
Disease	Deafness
Variation	info
Gene	GJB2
CLNDBN	Deafness, autosomal dominant 3a Deafness, autosomal recessive 1A
Reversed	1
HGVS	NC_000013.10:g.20763207delA
CLNSRC
CLNACC	RCV000409815.1, RCV000411799.1,