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rs796065304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796065304(-;-)
Make rs796065304(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position823783
GeneCRACR2B, PNPLA2
is asnp
is mentioned by
dbSNPrs796065304
dbSNP (old)rs796065304
ClinGenrs796065304
ebirs796065304
HLIrs796065304
Exacrs796065304
Gnomadrs796065304
Varsomers796065304
Maprs796065304
PheGenIrs796065304
Biobankrs796065304
1000 genomesrs796065304
hgdprs796065304
ensemblrs796065304
gopubmedrs796065304
geneviewrs796065304
scholarrs796065304
googlers796065304
pharmgkbrs796065304
gwascentralrs796065304
openSNPrs796065304
23andMers796065304
23andMe allrs796065304
SNP Nexus

SNPshotrs796065304
SNPdbers796065304
MSV3drs796065304
GWAS Ctlgrs796065304
Max Magnitude0
ClinVar
Risk rs796065304(-;-)
Alt rs796065304(-;-)
Reference Rs796065304(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.823783delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000001952.2,