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: rs5742904
rs5742904
APOB
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.100 0.917 12 1991 2018
dbSNP: rs137852912
rs137852912
PCSK9
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.100 1.000 11 2004 2020
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
8 0.790 0.120 19 11113680 missense variant G/T snv 0.100 1.000 10 2004 2020
dbSNP: rs12713559
rs12713559
APOB
10 0.776 0.120 2 21006196 missense variant G/A snv 3.4E-04 5.0E-04 0.040 1.000 4 1997 2000
dbSNP: rs28942111
rs28942111
PCSK9
7 0.807 0.120 1 55044016 missense variant T/A snv 0.030 1.000 3 2007 2009
dbSNP: rs3736228
rs3736228
LRP5
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.030 1.000 3 2006 2009
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 1.000 3 2010 2017
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 0.500 2 2015 2018
dbSNP: rs11887534
rs11887534
ABCG5 ; ABCG8
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 1.000 2 2004 2008
dbSNP: rs144467873
rs144467873
APOB
9 0.776 0.120 2 21006289 missense variant G/A snv 1.7E-04 6.3E-05 0.020 1.000 2 1997 1999
dbSNP: rs1468271
rs1468271
NPY ; LOC107986777
2 1.000 0.040 7 24287362 intron variant C/T snv 0.97 0.020 1.000 2 2008 2009
dbSNP: rs2241220
rs2241220
ACACB
2 1.000 0.040 12 109237224 synonymous variant T/A;C;G snv 4.0E-06; 0.83 0.020 1.000 2 2008 2009
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.020 0.500 2 1993 2001
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1047731829
rs1047731829
LDLR
1 1.000 0.040 19 11120186 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs11542041
rs11542041
APOE
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 < 0.001 1 1993 1993
dbSNP: rs116928232
rs116928232
LIPA
9 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.010 1.000 1 2013 2013
dbSNP: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12252
rs12252
IFITM3
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2017 2017
dbSNP: rs12422149
rs12422149
SLCO2B1
7 0.827 0.120 11 75172532 missense variant G/A;T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs12449157
rs12449157
GFOD2
4 1.000 0.040 16 67674994 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1279368649
rs1279368649
LDLR
1 1.000 0.040 19 11120146 missense variant C/T snv 2.1E-05 0.010 1.000 1 1996 1996