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: rs121908039
rs121908039
0.882 0.080 19 11105457 missense variant G/A;C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs121908043
rs121908043
0.882 0.080 19 11113307 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs139361635
rs139361635
0.882 0.120 19 11110735 missense variant G/A;C;T snv 4.5E-04
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs28941776
rs28941776
0.882 0.080 19 11116153 missense variant G/A;T snv 2.4E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs730882085
rs730882085
0.882 0.080 19 11105495 missense variant T/C;G snv 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs761954844
rs761954844
0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.810 1.000 31 1989 2017
dbSNP: rs777188764
rs777188764
0.882 0.080 19 11116874 missense variant G/A;T snv 3.2E-05; 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs879254714
rs879254714
0.882 0.080 19 11107476 missense variant A/C;G snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017
dbSNP: rs879254747
rs879254747
0.882 0.080 19 11110688 missense variant C/G;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs879254753
rs879254753
0.882 0.080 19 11110723 missense variant T/A;C;G snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017
dbSNP: rs879254900
rs879254900
0.882 0.080 19 11113612 missense variant T/C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs146200173
rs146200173
0.882 0.080 19 11113292 missense variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 20 1989 2012
dbSNP: rs373646964
rs373646964
0.882 0.160 19 11113650 missense variant G/A;C snv 2.4E-05; 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 20 1989 2012
dbSNP: rs879254667
rs879254667
0.882 0.080 19 11106631 missense variant A/C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 20 1989 2012
dbSNP: rs730882096
rs730882096
0.882 0.080 19 11110738 missense variant G/A;T snv 2.8E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 11 2004 2017
dbSNP: rs730882106
rs730882106
0.882 0.080 19 11113752 missense variant C/A;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 11 2004 2017
dbSNP: rs753707206
rs753707206
0.882 0.080 19 11116954 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 11 2004 2017
dbSNP: rs767767730
rs767767730
0.882 0.160 19 11111519 missense variant G/A;C;T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 11 2004 2017
dbSNP: rs771019366
rs771019366
0.882 0.080 19 11102742 missense variant A/C;G snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 11 2004 2017
dbSNP: rs773658037
rs773658037
0.882 0.160 19 11113338 missense variant G/A;C;T snv 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.810 1.000 11 2004 2018
dbSNP: rs875989914
rs875989914
0.882 0.080 19 11110760 missense variant G/A;C snv 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 11 2004 2017
dbSNP: rs875989915
rs875989915
0.882 0.080 19 11111526 missense variant G/A snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 11 2004 2017
dbSNP: rs875989929
rs875989929
0.882 0.080 19 11116888 missense variant G/A;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 11 1992 2017
dbSNP: rs201573863
rs201573863
0.882 0.080 19 11120478 missense variant C/T snv 2.0E-05 9.8E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 0
dbSNP: rs746118995
rs746118995
0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.810 1.000 0 1997 2019