rs1057517233

Orientation

minus

Stabilized

minus

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

Make rs1057517233(A;G)

Make rs1057517233(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

51937395

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs1057517233
dbSNP (classic)	rs1057517233
ClinGen	rs1057517233
ebi	rs1057517233
HLI	rs1057517233
Exac	rs1057517233
Gnomad	rs1057517233
Varsome	rs1057517233
LitVar	rs1057517233
Map	rs1057517233
PheGenI	rs1057517233
Biobank	rs1057517233
1000 genomes	rs1057517233
hgdp	rs1057517233
ensembl	rs1057517233
geneview	rs1057517233
scholar	rs1057517233
google	rs1057517233
pharmgkb	rs1057517233
gwascentral	rs1057517233
openSNP	rs1057517233
23andMe	rs1057517233
SNPshot	rs1057517233
SNPdbe	rs1057517233
MSV3d	rs1057517233
GWAS Ctlg	rs1057517233

Max Magnitude

0

ClinVar
Risk	rs1057517233(G;G)
Alt	rs1057517233(G;G)
Reference	Rs1057517233(A;A)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52511531T>C
CLNSRC
CLNACC	RCV000411074.1,