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: rs137853960
rs137853960
1.000 0.080 19 11100303 missense variant G/A;T snv 6.8E-05; 5.3E-04
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017
dbSNP: rs879254845
rs879254845
1.000 0.080 19 11113335 missense variant A/G;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017
dbSNP: rs879255208
rs879255208
1.000 0.080 19 11129540 missense variant T/A snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017
dbSNP: rs72658858
rs72658858
1.000 0.080 19 11107514 missense variant G/A;T snv 4.8E-05; 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 0
dbSNP: rs730882091
rs730882091
1.000 0.080 19 11107427 missense variant C/T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 0
dbSNP: rs121908036
rs121908036
0.925 0.080 19 11113388 missense variant G/C;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs121908041
rs121908041
0.925 0.080 19 11100292 missense variant G/A;C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs139624145
rs139624145
0.925 0.080 19 11113620 missense variant G/A;C;T snv 4.0E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs140241383
rs140241383
0.925 0.080 19 11107432 missense variant C/A;T snv 2.8E-05; 3.7E-04
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs185098634
rs185098634
0.925 0.080 19 11116873 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017
dbSNP: rs28942079
rs28942079
0.925 0.080 19 11113382 missense variant G/A;C;T snv 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs28942083
rs28942083
0.925 0.080 19 11120382 missense variant G/A;T snv 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.810 1.000 31 1989 2017
dbSNP: rs28942085
rs28942085
0.925 0.080 19 11129606 missense variant A/C;G snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs370860696
rs370860696
0.925 0.080 19 11102705 missense variant C/T snv 2.8E-05 3.5E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017
dbSNP: rs397509365
rs397509365
0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.810 1.000 31 1989 2017
dbSNP: rs730882086
rs730882086
0.925 0.080 19 11105571 missense variant G/A;T snv 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs746982741
rs746982741
0.925 0.080 19 11111550 missense variant A/C;G snv 2.4E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.710 1.000 31 1989 2017
dbSNP: rs748944640
rs748944640
0.925 0.080 19 11105324 stop gained G/A;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs749038326
rs749038326
0.925 0.080 19 11102741 missense variant G/A;T snv 5.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs758194385
rs758194385
0.925 0.080 19 11116198 missense variant A/G snv 2.8E-05 7.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs767618089
rs767618089
0.925 0.080 19 11107472 stop gained A/G;T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017
dbSNP: rs769318035
rs769318035
0.925 0.080 19 11105425 stop gained C/A;G;T snv 8.0E-06; 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.800 1.000 31 1989 2017
dbSNP: rs878854026
rs878854026
0.925 0.080 19 11100321 missense variant T/C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017
dbSNP: rs879254456
rs879254456
0.925 0.080 19 11102756 missense variant T/A;C;G snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.710 1.000 31 1989 2017
dbSNP: rs879254482
rs879254482
0.925 0.080 19 11105252 missense variant T/C snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
0.700 1.000 31 1989 2017