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: rs11547917
rs11547917
LDLR
0.807 0.200 19 11107491 stop gained C/A;G;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs121908025
rs121908025
LDLR
0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.860 1.000 31 1989 2017
dbSNP: rs121908026
rs121908026
LDLR
0.851 0.160 19 11105436 missense variant C/T snv 1.6E-05 3.5E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs121908028
rs121908028
LDLR
0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.810 1.000 31 1989 2017
dbSNP: rs121908029
rs121908029
LDLR
0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs121908033
rs121908033
LDLR
0.882 0.080 19 11105429 missense variant G/A;T snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.810 1.000 31 1989 2017
dbSNP: rs121908036
rs121908036
LDLR ; MIR6886
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: rs121908039
rs121908039
LDLR
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: rs121908040
rs121908040
LDLR
0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs121908041
rs121908041
LDLR
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: rs121908043
rs121908043
LDLR ; MIR6886
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: rs137853960
rs137853960
LDLR
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: rs138947766
rs138947766
LDLR
0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.830 1.000 31 1989 2018
dbSNP: rs139043155
rs139043155
LDLR
0.790 0.200 19 11106668 missense variant T/A snv 3.2E-05 4.2E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs139361635
rs139361635
LDLR
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: rs139624145
rs139624145
LDLR ; MIR6886
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
LDLR
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: rs144172724
rs144172724
LDLR
0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
dbSNP: rs146651743
rs146651743
LDLR
0.851 0.160 19 11107402 stop gained C/A;G;T snv 2.5E-04
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.800 1.000 31 1989 2017
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