rs121907993

Orientation

minus

Stabilized

minus

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

Make rs121907993(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51949772

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs121907993
dbSNP (classic)	rs121907993
ClinGen	rs121907993
ebi	rs121907993
HLI	rs121907993
Exac	rs121907993
Gnomad	rs121907993
Varsome	rs121907993
LitVar	rs121907993
Map	rs121907993
PheGenI	rs121907993
Biobank	rs121907993
1000 genomes	rs121907993
hgdp	rs121907993
ensembl	rs121907993
geneview	rs121907993
scholar	rs121907993
google	rs121907993
pharmgkb	rs121907993
gwascentral	rs121907993
openSNP	rs121907993
23andMe	rs121907993
SNPshot	rs121907993
SNPdbe	rs121907993
MSV3d	rs121907993
GWAS Ctlg	rs121907993

GMAF

0.0

Max Magnitude

3

OMIM	606882
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121907993(G;G) rs121907993(T;T)
Alt	rs121907993(G;G) rs121907993(T;T)
Reference	Rs121907993(C;C)
Significance	Other
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52523908G>A; NC_000013.10:g.52523908G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000388607.1, RCV000004061.4,