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: rs1451659304
rs1451659304
2 1.000 0.040 16 868990 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1132312
rs1132312
1 1.000 0.040 1 15518120 missense variant A/C;G;T snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs5707
rs5707
REN
2 1.000 0.040 1 204160543 intron variant A/C;G;T snv 0.25; 2.0E-05; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs111033566
rs111033566
11 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1223231582
rs1223231582
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs777418530
rs777418530
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2008
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2013 2013
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 < 0.001 1 2013 2013
dbSNP: rs778574118
rs778574118
1 1.000 0.040 10 113721138 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 0.667 3 2007 2014
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.020 1.000 2 2013 2019
dbSNP: rs2071746
rs2071746
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 2017 2017
dbSNP: rs121912654
rs121912654
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs1805017
rs1805017
5 0.851 0.240 6 46716485 missense variant C/A;T snv 4.0E-06; 0.31 0.010 1.000 1 2017 2017
dbSNP: rs497078
rs497078
2 0.925 0.040 1 15440540 synonymous variant C/A;T snv 3.7E-03; 9.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2013 2013
dbSNP: rs371282890
rs371282890
LPL
6 0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs12688220
rs12688220
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.020 1.000 2 2018 2020
dbSNP: rs142907823
rs142907823
1 1.000 0.040 1 12188800 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs5029924
rs5029924
4 0.851 0.200 6 137866361 intron variant C/T snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs5743795
rs5743795
1 1.000 0.040 4 38830874 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015