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rs41292782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41292782(A;A)
Make rs41292782(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51946372
GeneATP7B
is asnp
is mentioned by
dbSNPrs41292782
ebirs41292782
HLIrs41292782
Exacrs41292782
Varsomers41292782
Maprs41292782
PheGenIrs41292782
hapmaprs41292782
1000 genomesrs41292782
hgdprs41292782
ensemblrs41292782
gopubmedrs41292782
geneviewrs41292782
scholarrs41292782
googlers41292782
pharmgkbrs41292782
gwascentralrs41292782
openSNPrs41292782
23andMers41292782
23andMe allrs41292782
SNP Nexus

SNPshotrs41292782
SNPdbers41292782
MSV3drs41292782
GWAS Ctlgrs41292782
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs41292782(A;A)
Alt rs41292782(A;A)
Reference rs41292782(G;G)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 0
HGVS NC_000013.10:g.52520508G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029361.1,



[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.