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: 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: rs3824260
rs3824260
CYP7A1
11 0.742 0.160 8 58500631 upstream gene variant A/G;T snv 0.010 1.000 1 2020 2020
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: 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: rs11932595
rs11932595
CLOCK
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs236918
rs236918
PCSK7
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs4580704
rs4580704
CLOCK
13 0.790 0.200 4 55460540 intron variant G/C snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs4646234
rs4646234
SLC15A1
2 1.000 0.040 13 98684126 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs515135
rs515135 		9 0.807 0.160 2 21063185 intergenic variant T/C snv 0.73 0.010 < 0.001 1 2019 2019
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: 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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs374603772
rs374603772
PCSK9
9 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2018 2018
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: 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: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs17222772
rs17222772
ALOX5AP
3 0.925 0.120 13 30737959 intron variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs17231896
rs17231896
CETP
3 0.925 0.120 16 56982180 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs761675397
rs761675397
ABCG2
1 1.000 0.040 4 88114965 missense variant T/C snv 2.8E-05 2.8E-05 0.010 1.000 1 2017 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 0.010 1.000 1 2016 2016
dbSNP: rs730882106
rs730882106
LDLR ; MIR6886
5 0.882 0.080 19 11113752 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2016 2016