Source: UNIPROT

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: rs528243561
rs528243561
LPL
1.000 0.080 8 19954258 missense variant T/A;C snv 3.6E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
0.710 1.000 20 1990 2019