Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs546542623
rs546542623
LPL
1.000 0.080 8 19959335 missense variant C/T snv 2.0E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
0.700 1.000 20 1990 2005