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: rs3851179
rs3851179
15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.090 1.000 9 2010 2017
dbSNP: rs610932
rs610932
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.040 1.000 4 2015 2018
dbSNP: rs744373
rs744373
8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.030 1.000 3 2011 2018
dbSNP: rs11190302
rs11190302
1 1.000 0.080 10 99873158 downstream gene variant C/T snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs2279420
rs2279420
1 1.000 0.080 10 60022189 downstream gene variant A/G snv 8.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.010 1.000 1 2007 2007
dbSNP: rs7910977
rs7910977
4 0.882 0.160 10 92450119 downstream gene variant C/T snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs3865444
rs3865444
8 0.851 0.160 19 51224706 upstream gene variant C/A snv 0.25 0.040 1.000 4 2015 2019
dbSNP: rs1550117
rs1550117
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs3826656
rs3826656
2 0.925 0.080 19 51223357 upstream gene variant G/A snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs4646953
rs4646953
IDE
3 0.882 0.160 10 92574198 upstream gene variant A/G snv 0.17 0.010 1.000 1 2007 2007
dbSNP: rs890293
rs890293
4 0.851 0.200 1 59926822 upstream gene variant C/A snv 8.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs2297472
rs2297472
1 1.000 0.080 10 89225233 splice region variant G/A;C;T snv 0.29; 8.0E-06; 4.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs760832624
rs760832624
3 0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins 0.030 0.667 3 2009 2010
dbSNP: rs6859
rs6859
10 0.827 0.120 19 44878777 3 prime UTR variant A/G snv 0.58 0.020 1.000 2 2011 2017
dbSNP: rs9331949
rs9331949
2 0.925 0.080 8 27597169 3 prime UTR variant T/C snv 6.2E-02 4.7E-02 0.020 1.000 2 2013 2017
dbSNP: rs1050283
rs1050283
4 0.882 0.160 12 10159690 3 prime UTR variant G/A snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1050286
rs1050286
3 0.882 0.160 12 10158964 3 prime UTR variant T/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1059507
rs1059507
LPL
4 1.000 0.080 8 19966452 3 prime UTR variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1131445
rs1131445
16 0.724 0.440 15 81309441 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs17808009
rs17808009
1 1.000 0.080 12 10159330 3 prime UTR variant C/T snv 0.42 0.010 1.000 1 2018 2018