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rs796065309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796065309(-;-)
Make rs796065309(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position822453
GenePNPLA2
is asnp
is mentioned by
dbSNPrs796065309
dbSNP (old)rs796065309
ClinGenrs796065309
ebirs796065309
HLIrs796065309
Exacrs796065309
Gnomadrs796065309
Varsomers796065309
Maprs796065309
PheGenIrs796065309
Biobankrs796065309
1000 genomesrs796065309
hgdprs796065309
ensemblrs796065309
gopubmedrs796065309
geneviewrs796065309
scholarrs796065309
googlers796065309
pharmgkbrs796065309
gwascentralrs796065309
openSNPrs796065309
23andMers796065309
23andMe allrs796065309
SNP Nexus

SNPshotrs796065309
SNPdbers796065309
MSV3drs796065309
GWAS Ctlgrs796065309
Max Magnitude0
ClinVar
Risk rs796065309(-;-)
Alt rs796065309(-;-)
Reference Rs796065309(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.822453delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000055642.5,