rs1057517521

Orientation

minus

Stabilized

minus

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

Make rs1057517521(-;-)

Make rs1057517521(-;CA)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

20189006

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs1057517521
dbSNP (classic)	rs1057517521
ClinGen	rs1057517521
ebi	rs1057517521
HLI	rs1057517521
Exac	rs1057517521
Gnomad	rs1057517521
Varsome	rs1057517521
LitVar	rs1057517521
Map	rs1057517521
PheGenI	rs1057517521
Biobank	rs1057517521
1000 genomes	rs1057517521
hgdp	rs1057517521
ensembl	rs1057517521
geneview	rs1057517521
scholar	rs1057517521
google	rs1057517521
pharmgkb	rs1057517521
gwascentral	rs1057517521
openSNP	rs1057517521
23andMe	rs1057517521
SNPshot	rs1057517521
SNPdbe	rs1057517521
MSV3d	rs1057517521
GWAS Ctlg	rs1057517521

Max Magnitude

0

ClinVar
Risk	rs1057517521(-;-)
Alt	rs1057517521(-;-)
Reference	Rs1057517521(CA;CA)
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.20763145_20763146delTG
CLNSRC
CLNACC	RCV000409438.1, RCV000411838.1,