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rs786204643

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204643(G;T)
Make rs786204643(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51974966
GeneATP7B
is asnp
is mentioned by
dbSNPrs786204643
ebirs786204643
HLIrs786204643
Exacrs786204643
Varsomers786204643
Maprs786204643
PheGenIrs786204643
hapmaprs786204643
1000 genomesrs786204643
hgdprs786204643
ensemblrs786204643
gopubmedrs786204643
geneviewrs786204643
scholarrs786204643
googlers786204643
pharmgkbrs786204643
gwascentralrs786204643
openSNPrs786204643
23andMers786204643
23andMe allrs786204643
SNP Nexus

SNPshotrs786204643
SNPdbers786204643
MSV3drs786204643
GWAS Ctlgrs786204643
Max Magnitude0
ClinVar
Risk rs786204643(T;T)
Alt rs786204643(T;T)
Reference rs786204643(G;G)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52549102C>A
CLNSRC
CLNACC RCV000169428.1,