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rs121908832

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908832(A;G)
Make rs121908832(G;G)
ReferenceGRCh37.p10 37.5/138
Chromosome11
Position822407
GenePNPLA2
is asnp
is mentioned by
dbSNPrs121908832
dbSNP (classic)rs121908832
ClinGenrs121908832
ebirs121908832
HLIrs121908832
Exacrs121908832
Gnomadrs121908832
Varsomers121908832
LitVarrs121908832
Maprs121908832
PheGenIrs121908832
Biobankrs121908832
1000 genomesrs121908832
hgdprs121908832
ensemblrs121908832
geneviewrs121908832
scholarrs121908832
googlers121908832
pharmgkbrs121908832
gwascentralrs121908832
openSNPrs121908832
23andMers121908832
SNPshotrs121908832
SNPdbers121908832
MSV3drs121908832
GWAS Ctlgrs121908832
Max Magnitude0
ClinVar
Risk rs121908832(G;G)
Alt rs121908832(G;G)
Reference Rs121908832(A;A)
Significance Pathogenic
Disease Neutral lipid storage disease with myopathy
Variation info
Gene PNPLA2
CLNDBN Neutral lipid storage disease with myopathy
Reversed 0
HGVS NC_000011.9:g.822407A>G
CLNSRC
CLNACC