rs41292782

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs41292782(A;A)

Make rs41292782(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

51946372

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs41292782
dbSNP (classic)	rs41292782
ClinGen	rs41292782
ebi	rs41292782
HLI	rs41292782
Exac	rs41292782
Gnomad	rs41292782
Varsome	rs41292782
LitVar	rs41292782
Map	rs41292782
PheGenI	rs41292782
Biobank	rs41292782
1000 genomes	rs41292782
hgdp	rs41292782
ensembl	rs41292782
geneview	rs41292782
scholar	rs41292782
google	rs41292782
pharmgkb	rs41292782
gwascentral	rs41292782
openSNP	rs41292782
23andMe	rs41292782
SNPshot	rs41292782
SNPdbe	rs41292782
MSV3d	rs41292782
GWAS Ctlg	rs41292782

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs41292782(A;A)
Alt	rs41292782(A;A)
Reference	Rs41292782(G;G)
Significance	Other
Disease	Wilson disease not provided
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided
Reversed	0
HGVS	NC_000013.10:g.52520508G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000029361.1, RCV000255583.3,

[PMID 16088907] Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry.

[PMID 17949296] Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

[PMID 20333758] Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.