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rs751710854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs751710854(A;A)
Make rs751710854(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51957580
GeneATP7B
is asnp
is mentioned by
dbSNPrs751710854
dbSNP (classic)rs751710854
ClinGenrs751710854
ebirs751710854
HLIrs751710854
Exacrs751710854
Gnomadrs751710854
Varsomers751710854
LitVarrs751710854
Maprs751710854
PheGenIrs751710854
Biobankrs751710854
1000 genomesrs751710854
hgdprs751710854
ensemblrs751710854
geneviewrs751710854
scholarrs751710854
googlers751710854
pharmgkbrs751710854
gwascentralrs751710854
openSNPrs751710854
23andMers751710854
SNPshotrs751710854
SNPdbers751710854
MSV3drs751710854
GWAS Ctlgrs751710854
Max Magnitude0
ClinVar
Risk rs751710854(A;A)
Alt rs751710854(A;A)
Reference Rs751710854(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52531716G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000169151.1,