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rs796065307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796065307(-;-)
Make rs796065307(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position822004
GenePNPLA2
is asnp
is mentioned by
dbSNPrs796065307
dbSNP (old)rs796065307
ClinGenrs796065307
ebirs796065307
HLIrs796065307
Exacrs796065307
Gnomadrs796065307
Varsomers796065307
Maprs796065307
PheGenIrs796065307
Biobankrs796065307
1000 genomesrs796065307
hgdprs796065307
ensemblrs796065307
gopubmedrs796065307
geneviewrs796065307
scholarrs796065307
googlers796065307
pharmgkbrs796065307
gwascentralrs796065307
openSNPrs796065307
23andMers796065307
23andMe allrs796065307
SNP Nexus

SNPshotrs796065307
SNPdbers796065307
MSV3drs796065307
GWAS Ctlgrs796065307
Max Magnitude0
ClinVar
Risk rs796065307(-;-)
Alt rs796065307(-;-)
Reference Rs796065307(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.822004delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000033095.4,