rs181250704

Orientation

plus

Stabilized

plus

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

Make rs181250704(A;A)

Make rs181250704(A;G)

Reference

GRCh38 38.1/142

Chromosome

13

Position

51935019

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs181250704
dbSNP (classic)	rs181250704
ClinGen	rs181250704
ebi	rs181250704
HLI	rs181250704
Exac	rs181250704
Gnomad	rs181250704
Varsome	rs181250704
LitVar	rs181250704
Map	rs181250704
PheGenI	rs181250704
Biobank	rs181250704
1000 genomes	rs181250704
hgdp	rs181250704
ensembl	rs181250704
geneview	rs181250704
scholar	rs181250704
google	rs181250704
pharmgkb	rs181250704
gwascentral	rs181250704
openSNP	rs181250704
23andMe	rs181250704
SNPshot	rs181250704
SNPdbe	rs181250704
MSV3d	rs181250704
GWAS Ctlg	rs181250704

Max Magnitude

0

ClinVar
Risk	rs181250704(A;A)
Alt	rs181250704(A;A)
Reference	Rs181250704(G;G)
Significance	Probable-Pathogenic
Disease	Wilson disease not specified
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not specified
Reversed	0
HGVS	NC_000013.10:g.52509155G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000145282.1, RCV000309770.2,