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: rs626283
rs626283
MBOAT7 ; TMC4 ; LOC112268246
7 0.827 0.160 19 54173307 upstream gene variant C/G snv 0.61 0.020 0.500 2 2017 2018
dbSNP: rs10833
rs10833
IL15
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11669576
rs11669576
LDLR ; MIR6886
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs3480
rs3480
FNDC5
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs6834314
rs6834314 		10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs797044485
rs797044485
LMNA
4 0.851 0.160 1 156134832 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs267606959
rs267606959
POLG
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
dbSNP: rs2854116
rs2854116
APOC3
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.020 1.000 2 2012 2017
dbSNP: rs1057972
rs1057972
IL15
7 0.790 0.200 4 141733279 3 prime UTR variant A/T snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs1800588
rs1800588
LIPC ; ALDH1A2
16 0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs940553638
rs940553638
ALDH2
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs13361189
rs13361189 		13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 < 0.001 1 2019 2019
dbSNP: rs1800234
rs1800234
PPARA
6 0.807 0.240 22 46219983 missense variant T/A;C snv 4.0E-06; 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800777
rs1800777
CETP
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1553403917
rs1553403917
ALMS1
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs3865188
rs3865188 		10 0.790 0.320 16 82617112 intergenic variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2018 2018
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs2228603
rs2228603
NCAN
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1014959895
rs1014959895
PRMT7
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.030 1.000 3 2013 2018