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rs121918259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918259(C;T)
Make rs121918259(T;T)
ReferenceGRCh37 37.1/132
Chromosome11
Position822494
GenePNPLA2
is asnp
is mentioned by
dbSNPrs121918259
ebirs121918259
HLIrs121918259
Exacrs121918259
Varsomers121918259
Maprs121918259
PheGenIrs121918259
hapmaprs121918259
1000 genomesrs121918259
hgdprs121918259
ensemblrs121918259
gopubmedrs121918259
geneviewrs121918259
scholarrs121918259
googlers121918259
pharmgkbrs121918259
gwascentralrs121918259
openSNPrs121918259
23andMers121918259
23andMe allrs121918259
SNP Nexus

SNPshotrs121918259
SNPdbers121918259
MSV3drs121918259
GWAS Ctlgrs121918259
Max Magnitude0
OMIM609059
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918259(T;T)
Alt rs121918259(T;T)
Reference Rs121918259(C;C)
Significance Pathogenic
Disease Neutral lipid storage disease with myopathy
Variation info
Gene PNPLA2 RPLP2
CLNDBN Neutral lipid storage disease with myopathy
Reversed 0
HGVS NC_000011.9:g.822494C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001951.4,