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rs786204547

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204547(A;A)
Make rs786204547(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51941081
GeneATP7B
is asnp
is mentioned by
dbSNPrs786204547
ebirs786204547
HLIrs786204547
Exacrs786204547
Varsomers786204547
Maprs786204547
PheGenIrs786204547
hapmaprs786204547
1000 genomesrs786204547
hgdprs786204547
ensemblrs786204547
gopubmedrs786204547
geneviewrs786204547
scholarrs786204547
googlers786204547
pharmgkbrs786204547
gwascentralrs786204547
openSNPrs786204547
23andMers786204547
23andMe allrs786204547
SNP Nexus

SNPshotrs786204547
SNPdbers786204547
MSV3drs786204547
GWAS Ctlgrs786204547
Max Magnitude0
ClinVar
Risk rs786204547(A;A)
Alt rs786204547(A;A)
Reference rs786204547(G;G)
Significance Probable-Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52515217C>T
CLNSRC
CLNACC RCV000169260.1,