rs121907997

Orientation

minus

Stabilized

minus

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

Make rs121907997(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51958369

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs121907997
dbSNP (classic)	rs121907997
ClinGen	rs121907997
ebi	rs121907997
HLI	rs121907997
Exac	rs121907997
Gnomad	rs121907997
Varsome	rs121907997
LitVar	rs121907997
Map	rs121907997
PheGenI	rs121907997
Biobank	rs121907997
1000 genomes	rs121907997
hgdp	rs121907997
ensembl	rs121907997
geneview	rs121907997
scholar	rs121907997
google	rs121907997
pharmgkb	rs121907997
gwascentral	rs121907997
openSNP	rs121907997
23andMe	rs121907997
SNPshot	rs121907997
SNPdbe	rs121907997
MSV3d	rs121907997
GWAS Ctlg	rs121907997

Max Magnitude

3

OMIM	606882
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121907997(G;G) rs121907997(T;T)
Alt	rs121907997(G;G) rs121907997(T;T)
Reference	Rs121907997(C;C)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52532505G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004065.3,