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 0.700 1.000 40 1990 2017
dbSNP: rs121908026
rs121908026
LDLR
6 0.851 0.160 19 11105436 missense variant C/T snv 1.6E-05 3.5E-05 0.700 1.000 36 1989 2015
dbSNP: rs137929307
rs137929307
LDLR
12 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.710 1.000 27 1992 2016
dbSNP: rs28942084
rs28942084
LDLR
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.780 1.000 26 1989 2016
dbSNP: rs373822756
rs373822756
LDLR
8 0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05 0.720 1.000 25 1989 2015
dbSNP: rs570942190
rs570942190
LDLR ; MIR6886
7 0.827 0.200 19 11113337 missense variant C/T snv 2.4E-05 7.0E-06 0.700 1.000 25 1997 2016
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
7 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.760 1.000 22 1989 2016
dbSNP: rs5742904
rs5742904
APOB
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 22 1989 2017
dbSNP: rs750518671
rs750518671
LDLR
9 0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06 0.710 1.000 21 1995 2013
dbSNP: rs373646964
rs373646964
LDLR ; MIR6886
5 0.882 0.160 19 11113650 missense variant G/A;C snv 2.4E-05; 4.0E-06 0.700 1.000 20 1998 2019
dbSNP: rs879254753
rs879254753
LDLR
3 0.882 0.080 19 11110723 missense variant T/A;C;G snv 0.700 1.000 20 1994 2016
dbSNP: rs144172724
rs144172724
LDLR
6 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.710 1.000 19 1992 2015
dbSNP: rs730882096
rs730882096
LDLR
5 0.882 0.080 19 11110738 missense variant G/A;T snv 2.8E-05 0.700 1.000 19 1992 2016
dbSNP: rs749038326
rs749038326
LDLR
4 0.925 0.080 19 11102741 missense variant G/A;T snv 5.6E-05 0.700 1.000 18 1992 2017
dbSNP: rs112029328
rs112029328
LDLR
5 0.882 0.080 19 11102787 splice donor variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06 0.700 1.000 17 1994 2015
dbSNP: rs376459828
rs376459828
LDLR
5 0.882 0.080 19 11105496 missense variant G/A;T snv 4.0E-06 0.700 1.000 17 1992 2019
dbSNP: rs875989906
rs875989906
LDLR
3 0.925 0.080 19 11105567 missense variant G/A;T snv 0.710 1.000 17 1991 2015
dbSNP: rs121908028
rs121908028
LDLR
6 0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05 0.710 1.000 16 1989 2016
dbSNP: rs121908031
rs121908031
LDLR
6 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.720 1.000 16 1964 2015
dbSNP: rs139624145
rs139624145
LDLR ; MIR6886
4 0.925 0.080 19 11113620 missense variant G/A;C;T snv 4.0E-05 0.700 1.000 16 1995 2016
dbSNP: rs200727689
rs200727689
LDLR
5 0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.710 1.000 16 1993 2016
dbSNP: rs28941776
rs28941776
LDLR
5 0.882 0.080 19 11116153 missense variant G/A;T snv 2.4E-05 0.710 1.000 16 1990 2015
dbSNP: rs28942083
rs28942083
LDLR
4 0.925 0.080 19 11120382 missense variant G/A;T snv 4.0E-06 0.710 1.000 16 1990 2016
dbSNP: rs769737896
rs769737896
LDLR
5 0.851 0.080 19 11110759 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.700 1.000 16 1994 2015
dbSNP: rs121908039
rs121908039
LDLR
5 0.882 0.080 19 11105457 missense variant G/A;C snv 0.700 1.000 15 1994 2015