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rs768729972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 3 Carrier of a Wilson disease mutation
Make rs768729972(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51958500
GeneATP7B
is asnp
is mentioned by
dbSNPrs768729972
dbSNP (classic)rs768729972
ClinGenrs768729972
ebirs768729972
HLIrs768729972
Exacrs768729972
Gnomadrs768729972
Varsomers768729972
LitVarrs768729972
Maprs768729972
PheGenIrs768729972
Biobankrs768729972
1000 genomesrs768729972
hgdprs768729972
ensemblrs768729972
geneviewrs768729972
scholarrs768729972
googlers768729972
pharmgkbrs768729972
gwascentralrs768729972
openSNPrs768729972
23andMers768729972
SNPshotrs768729972
SNPdbers768729972
MSV3drs768729972
GWAS Ctlgrs768729972
Max Magnitude3
ClinVar
Risk rs768729972(A;A)
Alt rs768729972(A;A)
Reference Rs768729972(-;-)
Significance Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52532637dupA
CLNSRC
CLNACC RCV000194439.1,