rs76151636

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a Wilson's disease mutation
(T;T)	5.7	Wilson's disease; variable age of onset

Reference

GRCh38 38.1/141

Chromosome

13

Position

51944145

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs76151636
dbSNP (classic)	rs76151636
ClinGen	rs76151636
ebi	rs76151636
HLI	rs76151636
Exac	rs76151636
Gnomad	rs76151636
Varsome	rs76151636
LitVar	rs76151636
Map	rs76151636
PheGenI	rs76151636
Biobank	rs76151636
1000 genomes	rs76151636
hgdp	rs76151636
ensembl	rs76151636
geneview	rs76151636
scholar	rs76151636
google	rs76151636
pharmgkb	rs76151636
gwascentral	rs76151636
openSNP	rs76151636
23andMe	rs76151636
SNPshot	rs76151636
SNPdbe	rs76151636
MSV3d	rs76151636
GWAS Ctlg	rs76151636

GMAF

0.001377

Max Magnitude

5.7

aka c.3207C>A, p.His1069Gln, H1069Q

This is commonly considered the most frequent ATP7B gene associated with Wilson's disease in European populations.

FTDNA & MyHeritage name: VG13S52444

23andMe name: i5053895

OMIM	606882
Desc
Variant	0002
Related	also

OMIM	606882
Desc
Variant	0006
Related	also

ClinVar
Risk	rs76151636(A;A) Rs76151636(T;T)
Alt	rs76151636(A;A) Rs76151636(T;T)
Reference	Rs76151636(G;G)
Significance	Pathogenic
Disease	Wilson disease not provided
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided
Reversed	0
HGVS	NC_000013.10:g.52518281G>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004052.7, RCV000078049.4,

[PMID 7626145] The Wilson disease gene: spectrum of mutations and their consequences.

[PMID 10544227] Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

[PMID 17717039] Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.