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: rs146695489
rs146695489
2 0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs148969251
rs148969251
1 1.000 0.040 11 120480110 missense variant A/G snv 3.3E-02 1.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 < 0.001 1 2001 2001
dbSNP: rs2014355
rs2014355
4 0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs2066808
rs2066808
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 < 0.001 1 2010 2010
dbSNP: rs225014
rs225014
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2010 2010
dbSNP: rs225017
rs225017
2 0.925 0.080 14 80200883 3 prime UTR variant A/T snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs2288377
rs2288377
2 0.925 0.080 12 102480984 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 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 2013 2013
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 1996 1996
dbSNP: rs2918419
rs2918419
2 0.925 0.040 5 143342788 intron variant T/C snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs2920502
rs2920502
6 0.851 0.160 3 12287696 intron variant G/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs2943641
rs2943641
18 0.763 0.160 2 226229029 intergenic variant T/C snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs33997857
rs33997857
1 1.000 0.040 2 11787112 missense variant G/A;T snv 1.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs35568725
rs35568725
3 0.925 0.080 9 19119676 missense variant A/G snv 4.1E-02 4.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs373115603
rs373115603
SDS
1 1.000 0.040 12 113398557 missense variant G/A snv 1.3E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs3732581
rs3732581
9 0.790 0.120 3 183840614 missense variant C/G;T snv 0.46; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs4629571
rs4629571
2 0.925 0.160 5 75362479 intron variant A/G snv 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs4925663
rs4925663
2 0.925 0.040 1 247451315 missense variant C/T snv 0.41 0.35 0.010 1.000 1 2019 2019
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs5742612
rs5742612
11 0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02 0.010 1.000 1 2017 2017