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rs796065308

From SNPedia

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,