rs121907990

Orientation

minus

Stabilized

minus

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

Make rs121907990(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51937570

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs121907990
dbSNP (classic)	rs121907990
ClinGen	rs121907990
ebi	rs121907990
HLI	rs121907990
Exac	rs121907990
Gnomad	rs121907990
Varsome	rs121907990
LitVar	rs121907990
Map	rs121907990
PheGenI	rs121907990
Biobank	rs121907990
1000 genomes	rs121907990
hgdp	rs121907990
ensembl	rs121907990
geneview	rs121907990
scholar	rs121907990
google	rs121907990
pharmgkb	rs121907990
gwascentral	rs121907990
openSNP	rs121907990
23andMe	rs121907990
SNPshot	rs121907990
SNPdbe	rs121907990
MSV3d	rs121907990
GWAS Ctlg	rs121907990

Max Magnitude

3

OMIM	606882
Desc
Variant	0003
Related	also

OMIM	606882
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121907990(G;G) rs121907990(T;T)
Alt	rs121907990(G;G) rs121907990(T;T)
Reference	Rs121907990(A;A)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52511706T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004063.6, RCV000196058.1,