rs28942074

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a Wilson disease mutation
(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

51958333

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs28942074
dbSNP (classic)	rs28942074
ClinGen	rs28942074
ebi	rs28942074
HLI	rs28942074
Exac	rs28942074
Gnomad	rs28942074
Varsome	rs28942074
LitVar	rs28942074
Map	rs28942074
PheGenI	rs28942074
Biobank	rs28942074
1000 genomes	rs28942074
hgdp	rs28942074
ensembl	rs28942074
geneview	rs28942074
scholar	rs28942074
google	rs28942074
pharmgkb	rs28942074
gwascentral	rs28942074
openSNP	rs28942074
23andMe	rs28942074
SNPshot	rs28942074
SNPdbe	rs28942074
MSV3d	rs28942074
GWAS Ctlg	rs28942074

Max Magnitude

5.7

aka c.2333G>T, p.Arg778Leu, R778L

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

OMIM	606882
Desc	WILSON DISEASE
Variant	0009
Related	also

ClinVar
Risk	rs28942074(A;A) Rs28942074(T;T)
Alt	rs28942074(A;A) Rs28942074(T;T)
Reference	Rs28942074(G;G)
Significance	Pathogenic
Disease	Wilson disease not provided
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided
Reversed	1
HGVS	NC_000013.10:g.52532469C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004056.2, RCV000389880.1,