rs572147914

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a Wilson disease mutation

Make rs572147914(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

51974407

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs572147914
dbSNP (classic)	rs572147914
ClinGen	rs572147914
ebi	rs572147914
HLI	rs572147914
Exac	rs572147914
Gnomad	rs572147914
Varsome	rs572147914
LitVar	rs572147914
Map	rs572147914
PheGenI	rs572147914
Biobank	rs572147914
1000 genomes	rs572147914
hgdp	rs572147914
ensembl	rs572147914
geneview	rs572147914
scholar	rs572147914
google	rs572147914
pharmgkb	rs572147914
gwascentral	rs572147914
openSNP	rs572147914
23andMe	rs572147914
SNPshot	rs572147914
SNPdbe	rs572147914
MSV3d	rs572147914
GWAS Ctlg	rs572147914

Max Magnitude

3

ClinVar
Risk	rs572147914(A;A) rs572147914(T;T)
Alt	rs572147914(A;A) rs572147914(T;T)
Reference	Rs572147914(G;G)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	0
HGVS	NC_000013.10:g.52548543G>T
CLNSRC
CLNACC	RCV000169298.1,