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: rs185098634
rs185098634
LDLR
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: rs200727689
rs200727689
LDLR
0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.810 1.000 31 1989 2017
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs28941776
rs28941776
LDLR
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: rs28942078
rs28942078
LDLR ; MIR6886
0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.840 1.000 31 1989 2017
dbSNP: rs28942079
rs28942079
LDLR ; MIR6886
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: rs28942080
rs28942080
LDLR ; MIR6886
0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.810 1.000 31 1989 2017
dbSNP: rs28942083
rs28942083
LDLR
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: rs28942084
rs28942084
LDLR
0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.880 1.000 31 1989 2018
dbSNP: rs28942085
rs28942085
LDLR
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: rs368657165
rs368657165
LDLR
0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.820 1.000 31 1989 2017
dbSNP: rs370860696
rs370860696
LDLR
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: rs373822756
rs373822756
LDLR
0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.820 1.000 31 1989 2017
dbSNP: rs374045590
rs374045590
LDLR
0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs397509365
rs397509365
LDLR
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: rs570942190
rs570942190
LDLR ; MIR6886
0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs730882085
rs730882085
LDLR
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: rs730882086
rs730882086
LDLR
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
LDLR ; MIR6886
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
LDLR
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
LDLR
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: rs750518671
rs750518671
LDLR
0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.810 1.000 31 1989 2017
dbSNP: rs758194385
rs758194385
LDLR
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: rs761954844
rs761954844
LDLR
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: rs767618089
rs767618089
LDLR
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