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rs786204718

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204718(A;A)
Make rs786204718(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51950069
GeneATP7B
is asnp
is mentioned by
dbSNPrs786204718
ebirs786204718
HLIrs786204718
Exacrs786204718
Varsomers786204718
Maprs786204718
PheGenIrs786204718
hapmaprs786204718
1000 genomesrs786204718
hgdprs786204718
ensemblrs786204718
gopubmedrs786204718
geneviewrs786204718
scholarrs786204718
googlers786204718
pharmgkbrs786204718
gwascentralrs786204718
openSNPrs786204718
23andMers786204718
23andMe allrs786204718
SNP Nexus

SNPshotrs786204718
SNPdbers786204718
MSV3drs786204718
GWAS Ctlgrs786204718
Max Magnitude0
ClinVar
Risk rs786204718(A;A)
Alt rs786204718(A;A)
Reference rs786204718(G;G)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52524205C>T
CLNSRC
CLNACC RCV000169535.1,