Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908029
rs121908029
LDLR
13 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.800 1.000 31 1989 2017
dbSNP: rs121908036
rs121908036
LDLR ; MIR6886
2 0.925 0.080 19 11113388 missense variant G/C;T snv 0.800 1.000 31 1989 2017
dbSNP: rs121908039
rs121908039
LDLR
5 0.882 0.080 19 11105457 missense variant G/A;C snv 0.800 1.000 31 1989 2017
dbSNP: rs121908040
rs121908040
LDLR
4 0.851 0.080 19 11106652 missense variant G/A;T snv 1.2E-05 0.800 1.000 31 1989 2017
dbSNP: rs121908041
rs121908041
LDLR
2 0.925 0.080 19 11100292 missense variant G/A;C snv 0.800 1.000 31 1989 2017
dbSNP: rs121908043
rs121908043
LDLR ; MIR6886
5 0.882 0.080 19 11113307 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.800 1.000 31 1989 2017
dbSNP: rs137853960
rs137853960
LDLR
1 1.000 0.080 19 11100303 missense variant G/A;T snv 6.8E-05; 5.3E-04 0.700 1.000 31 1989 2017
dbSNP: rs139361635
rs139361635
LDLR
4 0.882 0.120 19 11110735 missense variant G/A;C;T snv 4.5E-04 0.800 1.000 31 1989 2017
dbSNP: rs140241383
rs140241383
LDLR
4 0.925 0.080 19 11107432 missense variant C/A;T snv 2.8E-05; 3.7E-04 0.800 1.000 31 1989 2017
dbSNP: rs144172724
rs144172724
LDLR
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.800 1.000 31 1989 2017
dbSNP: rs146651743
rs146651743
LDLR
5 0.851 0.160 19 11107402 stop gained C/A;G;T snv 2.5E-04 0.800 1.000 31 1989 2017
dbSNP: rs185098634
rs185098634
LDLR
2 0.925 0.080 19 11116873 missense variant C/T snv 3.2E-05 2.1E-05 0.700 1.000 31 1989 2017
dbSNP: rs2228671
rs2228671
LDLR
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 31 1989 2017
dbSNP: rs28941776
rs28941776
LDLR
5 0.882 0.080 19 11116153 missense variant G/A;T snv 2.4E-05 0.800 1.000 31 1989 2017
dbSNP: rs28942079
rs28942079
LDLR ; MIR6886
4 0.925 0.080 19 11113382 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 31 1989 2017
dbSNP: rs28942085
rs28942085
LDLR
2 0.925 0.080 19 11129606 missense variant A/C;G snv 0.800 1.000 31 1989 2017
dbSNP: rs370860696
rs370860696
LDLR
2 0.925 0.080 19 11102705 missense variant C/T snv 2.8E-05 3.5E-05 0.700 1.000 31 1989 2017
dbSNP: rs374045590
rs374045590
LDLR
7 0.827 0.080 19 11129598 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.800 1.000 31 1989 2017
dbSNP: rs730882085
rs730882085
LDLR
3 0.882 0.080 19 11105495 missense variant T/C;G snv 4.0E-06 0.800 1.000 31 1989 2017
dbSNP: rs730882086
rs730882086
LDLR
2 0.925 0.080 19 11105571 missense variant G/A;T snv 4.0E-06 0.800 1.000 31 1989 2017
dbSNP: rs748944640
rs748944640
LDLR
4 0.925 0.080 19 11105324 stop gained G/A;T snv 8.0E-06 0.800 1.000 31 1989 2017
dbSNP: rs749038326
rs749038326
LDLR
4 0.925 0.080 19 11102741 missense variant G/A;T snv 5.6E-05 0.800 1.000 31 1989 2017
dbSNP: rs761954844
rs761954844
LDLR
4 0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05 0.810 1.000 31 1989 2017
dbSNP: rs767618089
rs767618089
LDLR
4 0.925 0.080 19 11107472 stop gained A/G;T snv 1.2E-05 0.700 1.000 31 1989 2017
dbSNP: rs769318035
rs769318035
LDLR
4 0.925 0.080 19 11105425 stop gained C/A;G;T snv 8.0E-06; 4.0E-06 0.800 1.000 31 1989 2017