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rs777539013

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs777539013(C;C)
Make rs777539013(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position823589
GenePNPLA2
is asnp
is mentioned by
dbSNPrs777539013
ebirs777539013
HLIrs777539013
Exacrs777539013
Varsomers777539013
Maprs777539013
PheGenIrs777539013
hapmaprs777539013
1000 genomesrs777539013
hgdprs777539013
ensemblrs777539013
gopubmedrs777539013
geneviewrs777539013
scholarrs777539013
googlers777539013
pharmgkbrs777539013
gwascentralrs777539013
openSNPrs777539013
23andMers777539013
23andMe allrs777539013
SNP Nexus

SNPshotrs777539013
SNPdbers777539013
MSV3drs777539013
GWAS Ctlgrs777539013
Max Magnitude0
ClinVar
Risk rs777539013(C;C)
Alt rs777539013(C;C)
Reference rs777539013(T;T)
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.823589T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033092.4,