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rs121918260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918260(C;T)
Make rs121918260(T;T)
ReferenceGRCh37.p5 37.3/137
Chromosome11
Position823801
GenePNPLA2, RN5S2
is asnp
is mentioned by
dbSNPrs121918260
ebirs121918260
HLIrs121918260
Exacrs121918260
Varsomers121918260
Maprs121918260
PheGenIrs121918260
hapmaprs121918260
1000 genomesrs121918260
hgdprs121918260
ensemblrs121918260
gopubmedrs121918260
geneviewrs121918260
scholarrs121918260
googlers121918260
pharmgkbrs121918260
gwascentralrs121918260
openSNPrs121918260
23andMers121918260
23andMe allrs121918260
SNP Nexus

SNPshotrs121918260
SNPdbers121918260
MSV3drs121918260
GWAS Ctlgrs121918260
Max Magnitude0
OMIM609059
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918260(T;T)
Alt rs121918260(T;T)
Reference rs121918260(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.823801C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001953.3,