rs1057517310

Orientation

minus

Stabilized

minus

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

Make rs1057517310(G;T)

Make rs1057517310(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

51949710

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs1057517310
dbSNP (classic)	rs1057517310
ClinGen	rs1057517310
ebi	rs1057517310
HLI	rs1057517310
Exac	rs1057517310
Gnomad	rs1057517310
Varsome	rs1057517310
LitVar	rs1057517310
Map	rs1057517310
PheGenI	rs1057517310
Biobank	rs1057517310
1000 genomes	rs1057517310
hgdp	rs1057517310
ensembl	rs1057517310
geneview	rs1057517310
scholar	rs1057517310
google	rs1057517310
pharmgkb	rs1057517310
gwascentral	rs1057517310
openSNP	rs1057517310
23andMe	rs1057517310
SNPshot	rs1057517310
SNPdbe	rs1057517310
MSV3d	rs1057517310
GWAS Ctlg	rs1057517310

Max Magnitude

0

ClinVar
Risk	rs1057517310(T;T)
Alt	rs1057517310(T;T)
Reference	Rs1057517310(G;G)
Significance	Probable-Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52523846C>A
CLNSRC
CLNACC	RCV000410917.1,