rs121907998

minus

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

Make rs121907998(G;G)

Reference

GRCh38 38.1/142

Chromosome

13

Position

51961849

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs121907998
dbSNP (classic)	rs121907998
ClinGen	rs121907998
ebi	rs121907998
HLI	rs121907998
Exac	rs121907998
Gnomad	rs121907998
Varsome	rs121907998
LitVar	rs121907998
Map	rs121907998
PheGenI	rs121907998
Biobank	rs121907998
1000 genomes	rs121907998
hgdp	rs121907998
ensembl	rs121907998
geneview	rs121907998
scholar	rs121907998
google	rs121907998
pharmgkb	rs121907998
gwascentral	rs121907998
openSNP	rs121907998
23andMe	rs121907998
SNPshot	rs121907998
SNPdbe	rs121907998
MSV3d	rs121907998
GWAS Ctlg	rs121907998

Max Magnitude

3

OMIM	606882
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121907998(G;G)
Alt	rs121907998(G;G)
Reference	Rs121907998(T;T)
Significance	Pathogenic
Disease	Wilson disease
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease
Reversed	1
HGVS	NC_000013.10:g.52535985A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004066.6,

[PMID 1502474] [Dental implants. The contribution of iliac bone grafts].

[PMID 9311736 ] Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

[PMID 9482578] Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.

[PMID 15994426] NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells.

[PMID 16233999] Wilson's Disease.

[PMID 17433323] Late-onset Wilson's disease.