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: rs769452
rs769452
0.925 0.160 19 44907853 missense variant T/C snv 2.5E-03 1.9E-03
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 3 2013 2016
dbSNP: rs769455
rs769455
0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 3 2013 2016
dbSNP: rs267606664
rs267606664
0.851 0.120 19 44908730 missense variant G/A;C snv 1.6E-04; 6.3E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 0