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rs796065310

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796065310(-;CTCC)
Make rs796065310(CTCC;CTCC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position822015
GenePNPLA2
is asnp
is mentioned by
dbSNPrs796065310
ClinGenrs796065310
ebirs796065310
HLIrs796065310
Exacrs796065310
Varsomers796065310
Maprs796065310
PheGenIrs796065310
hapmaprs796065310
1000 genomesrs796065310
hgdprs796065310
ensemblrs796065310
gopubmedrs796065310
geneviewrs796065310
scholarrs796065310
googlers796065310
pharmgkbrs796065310
gwascentralrs796065310
openSNPrs796065310
23andMers796065310
23andMe allrs796065310
SNP Nexus

SNPshotrs796065310
SNPdbers796065310
MSV3drs796065310
GWAS Ctlgrs796065310
Max Magnitude0
ClinVar
Risk rs796065310(TCCC;TCCC)
Alt rs796065310(TCCC;TCCC)
Reference Rs796065310(;)
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.822012_822015dupCTCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000055643.4,