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rs748924063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs748924063(-;A)
Make rs748924063(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51941084
GeneATP7B
is asnp
is mentioned by
dbSNPrs748924063
dbSNP (classic)rs748924063
ClinGenrs748924063
ebirs748924063
HLIrs748924063
Exacrs748924063
Gnomadrs748924063
Varsomers748924063
LitVarrs748924063
Maprs748924063
PheGenIrs748924063
Biobankrs748924063
1000 genomesrs748924063
hgdprs748924063
ensemblrs748924063
geneviewrs748924063
scholarrs748924063
googlers748924063
pharmgkbrs748924063
gwascentralrs748924063
openSNPrs748924063
23andMers748924063
SNPshotrs748924063
SNPdbers748924063
MSV3drs748924063
GWAS Ctlgrs748924063
Max Magnitude0
ClinVar
Risk rs748924063(A;A)
Alt rs748924063(A;A)
Reference Rs748924063(-;-)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52515221dupA
CLNSRC
CLNACC RCV000169520.1,