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rs796065307

From SNPedia

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,