rs1057516844

Orientation

minus

Stabilized

minus

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

Make rs1057516844(C;T)

Make rs1057516844(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

51958363

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs1057516844
dbSNP (classic)	rs1057516844
ClinGen	rs1057516844
ebi	rs1057516844
HLI	rs1057516844
Exac	rs1057516844
Gnomad	rs1057516844
Varsome	rs1057516844
LitVar	rs1057516844
Map	rs1057516844
PheGenI	rs1057516844
Biobank	rs1057516844
1000 genomes	rs1057516844
hgdp	rs1057516844
ensembl	rs1057516844
geneview	rs1057516844
scholar	rs1057516844
google	rs1057516844
pharmgkb	rs1057516844
gwascentral	rs1057516844
openSNP	rs1057516844
23andMe	rs1057516844
SNPshot	rs1057516844
SNPdbe	rs1057516844
MSV3d	rs1057516844
GWAS Ctlg	rs1057516844

Max Magnitude

0

ClinVar
Risk	rs1057516844(T;T)
Alt	rs1057516844(T;T)
Reference	Rs1057516844(C;C)
Significance	Probable-Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52532499G>A
CLNSRC
CLNACC	RCV000410970.1,