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rs796065308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796065308(-;C)
Make rs796065308(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position822523
GenePNPLA2
is asnp
is mentioned by
dbSNPrs796065308
dbSNP (old)rs796065308
ClinGenrs796065308
ebirs796065308
HLIrs796065308
Exacrs796065308
Gnomadrs796065308
Varsomers796065308
Maprs796065308
PheGenIrs796065308
Biobankrs796065308
1000 genomesrs796065308
hgdprs796065308
ensemblrs796065308
gopubmedrs796065308
geneviewrs796065308
scholarrs796065308
googlers796065308
pharmgkbrs796065308
gwascentralrs796065308
openSNPrs796065308
23andMers796065308
23andMe allrs796065308
SNP Nexus

SNPshotrs796065308
SNPdbers796065308
MSV3drs796065308
GWAS Ctlgrs796065308
Max Magnitude0
ClinVar
Risk rs796065308(C;C)
Alt rs796065308(C;C)
Reference Rs796065308(-;-)
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.822523dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000055641.5,