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: 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 1989 2017
dbSNP: rs28942084
rs28942084
LDLR
5 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.780 1.000 8 1989 2016
dbSNP: rs28942078
rs28942078
LDLR ; MIR6886
5 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.760 1.000 6 1989 2016
dbSNP: rs121908025
rs121908025
LDLR
4 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.750 1.000 5 1990 2006
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 2005 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 1964 2015
dbSNP: rs140241383
rs140241383
LDLR
1 0.925 0.080 19 11107432 missense variant C/A;T snv 2.8E-05; 3.7E-04 0.720 1.000 2 1992 2016
dbSNP: rs368657165
rs368657165
LDLR
3 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.720 1.000 2 1994 2013
dbSNP: rs373822756
rs373822756
LDLR
2 0.807 0.200 19 11105568 missense variant A/G;T snv 5.2E-05 0.720 1.000 2 1989 2015
dbSNP: rs564427867
rs564427867
PCSK9
4 0.807 0.160 1 55039931 missense variant G/A snv 2.8E-05 2.8E-05 0.720 1.000 2 2010 2014
dbSNP: rs879254558
rs879254558
LDLR
1 0.925 0.080 19 11105423 missense variant T/C;G snv 0.720 1.000 2 1992 2017
dbSNP: rs879254597
rs879254597
LDLR
4 0.851 0.120 19 11105528 stop gained G/A;T snv 0.720 1.000 2 1989 2012
dbSNP: rs879254842
rs879254842
LDLR ; MIR6886
3 0.882 0.080 19 11113326 missense variant T/C snv 0.720 1.000 2 2000 2010
dbSNP: rs879254920
rs879254920
LDLR ; MIR6886
3 0.882 0.120 19 11113665 missense variant A/C;G snv 0.720 0.667 2 1998 2010
dbSNP: rs879255000
rs879255000
LDLR
4 0.851 0.080 19 11116882 missense variant T/C;G snv 0.720 1.000 2 1996 2012
dbSNP: rs1057519661
rs1057519661
LDLR
3 0.882 0.080 19 11105587 frameshift variant C/- del 0.710 1.000 1 2000 2000
dbSNP: rs121908028
rs121908028
LDLR
3 0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05 0.710 1.000 1 1989 2016
dbSNP: rs121908033
rs121908033
LDLR
3 0.882 0.080 19 11105429 missense variant G/A;T snv 8.0E-06 0.710 1.000 1 1987 2015
dbSNP: rs121908038
rs121908038
LDLR ; MIR6886
3 0.882 0.080 19 11113293 missense variant T/A snv 0.710 1.000 1 1995 2005
dbSNP: rs137853964
rs137853964
LDLR
2 0.925 0.080 19 11129602 missense variant G/A;T snv 1.0E-03 0.710 1.000 1 2017 2017
dbSNP: rs137929307
rs137929307
LDLR
4 0.752 0.240 19 11116928 missense variant G/A snv 4.4E-05 4.9E-05 0.710 1.000 1 1992 2016
dbSNP: rs138947766
rs138947766
LDLR
4 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.710 1.000 1 1996 2001
dbSNP: rs144172724
rs144172724
LDLR
1 0.851 0.080 19 11102774 stop gained G/A;T snv 1.6E-05 0.710 1.000 1 1992 2015
dbSNP: rs148181903
rs148181903
LDLR
2 0.925 0.160 19 11116990 missense variant G/A;T snv 2.8E-05 0.710 1.000 1 2010 2010
dbSNP: rs148698650
rs148698650
LDLR
2 0.925 0.080 19 11107403 stop gained G/A;T snv 5.4E-04 0.710 1.000 1 2010 2010