rs1057516305

Orientation

minus

Stabilized

minus

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

Make rs1057516305(G;T)

Make rs1057516305(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

51970663

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs1057516305
dbSNP (classic)	rs1057516305
ClinGen	rs1057516305
ebi	rs1057516305
HLI	rs1057516305
Exac	rs1057516305
Gnomad	rs1057516305
Varsome	rs1057516305
LitVar	rs1057516305
Map	rs1057516305
PheGenI	rs1057516305
Biobank	rs1057516305
1000 genomes	rs1057516305
hgdp	rs1057516305
ensembl	rs1057516305
geneview	rs1057516305
scholar	rs1057516305
google	rs1057516305
pharmgkb	rs1057516305
gwascentral	rs1057516305
openSNP	rs1057516305
23andMe	rs1057516305
SNPshot	rs1057516305
SNPdbe	rs1057516305
MSV3d	rs1057516305
GWAS Ctlg	rs1057516305

Max Magnitude

0

ClinVar
Risk	rs1057516305(T;T)
Alt	rs1057516305(T;T)
Reference	Rs1057516305(G;G)
Significance	Probable-Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52544799C>A
CLNSRC
CLNACC	RCV000409337.1,