rs1057517519

Orientation

minus

Stabilized

minus

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

Make rs1057517519(C;C)

Make rs1057517519(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

20189523

Gene

GJB2

is a	snp
is	mentioned by
dbSNP	rs1057517519
dbSNP (classic)	rs1057517519
ClinGen	rs1057517519
ebi	rs1057517519
HLI	rs1057517519
Exac	rs1057517519
Gnomad	rs1057517519
Varsome	rs1057517519
LitVar	rs1057517519
Map	rs1057517519
PheGenI	rs1057517519
Biobank	rs1057517519
1000 genomes	rs1057517519
hgdp	rs1057517519
ensembl	rs1057517519
geneview	rs1057517519
scholar	rs1057517519
google	rs1057517519
pharmgkb	rs1057517519
gwascentral	rs1057517519
openSNP	rs1057517519
23andMe	rs1057517519
SNPshot	rs1057517519
SNPdbe	rs1057517519
MSV3d	rs1057517519
GWAS Ctlg	rs1057517519

Max Magnitude

0

ClinVar
Risk	rs1057517519(C;C)
Alt	rs1057517519(C;C)
Reference	Rs1057517519(T;T)
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.20763662A>G
CLNSRC
CLNACC	RCV000410601.1, RCV000411693.1,