Source: BEFREE ×
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: rs28942084
rs28942084
LDLR
5 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.880 1.000 8 1989 2018
dbSNP: rs121908025
rs121908025
LDLR
4 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.860 1.000 6 1989 2017
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
5 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.840 1.000 4 1989 2017
dbSNP: rs138947766
rs138947766
LDLR
4 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.830 1.000 3 1989 2018
dbSNP: rs368657165
rs368657165
LDLR
3 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.820 1.000 2 1989 2017
dbSNP: rs373822756
rs373822756
LDLR
2 0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05 0.820 1.000 2 1989 2017
dbSNP: rs879255000
rs879255000
LDLR
4 0.851 0.080 19 11116882 missense variant T/C;G snv 0.820 1.000 2 1989 2017
dbSNP: rs121908028
rs121908028
LDLR
3 0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05 0.810 1.000 1 1989 2017
dbSNP: rs121908033
rs121908033
LDLR
3 0.882 0.080 19 11105429 missense variant G/A;T snv 8.0E-06 0.810 1.000 1 1989 2017
dbSNP: rs137929307
rs137929307
LDLR
4 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.810 1.000 1 2009 2009
dbSNP: rs200727689
rs200727689
LDLR
2 0.851 0.120 19 11105408 missense variant G/A;C;T snv 8.0E-06 0.810 1.000 1 1989 2017
dbSNP: rs28942080
rs28942080
LDLR ; MIR6886
2 0.807 0.200 19 11113743 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.810 1.000 1 1989 2017
dbSNP: rs28942083
rs28942083
LDLR
2 0.925 0.080 19 11120382 missense variant G/A;T snv 4.0E-06 0.810 1.000 1 1989 2017
dbSNP: rs397509365
rs397509365
LDLR
3 0.925 0.080 19 11116197 missense variant A/C;G snv 8.0E-06 0.810 1.000 1 1989 2017
dbSNP: rs746118995
rs746118995
LDLR
1 0.882 0.080 19 11120143 missense variant C/T snv 1.2E-05 2.8E-05 0.810 1.000 1 1997 2019
dbSNP: rs747507019
rs747507019
LDLR
3 0.882 0.080 19 11110690 missense variant C/T snv 6.0E-05 0.810 1.000 1 2009 2009
dbSNP: rs750518671
rs750518671
LDLR
2 0.790 0.200 19 11128085 missense variant G/A;C;T snv 8.0E-06 0.810 1.000 1 1989 2017
dbSNP: rs761954844
rs761954844
LDLR
3 0.882 0.120 19 11110697 missense variant G/A;T snv 1.6E-05 0.810 1.000 1 1989 2017
dbSNP: rs773658037
rs773658037
LDLR ; MIR6886
2 0.882 0.160 19 11113338 missense variant G/A;C;T snv 1.6E-05 0.810 1.000 1 2004 2018
dbSNP: rs879254739
rs879254739
LDLR
2 0.925 0.080 19 11110664 missense variant G/A;T snv 0.810 1.000 1 1989 2017
dbSNP: rs879254849
rs879254849
LDLR ; MIR6886
1 0.925 0.080 19 11113359 missense variant T/C snv 0.810 1.000 1 1989 2017
dbSNP: rs5742904
rs5742904
APOB
16 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.800 1.000 13 1990 2017
dbSNP: rs137852912
rs137852912
PCSK9
9 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.740 1.000 4 2009 2018
dbSNP: rs121908031
rs121908031
LDLR
2 0.851 0.160 19 11120425 stop gained C/A;G snv 8.0E-06 0.720 1.000 2 2009 2012
dbSNP: rs45508991
rs45508991
LDLR
2 0.925 0.080 19 11123210 missense variant C/T snv 5.5E-03 5.0E-03 0.720 1.000 2 1997 1998