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: rs121913564
rs121913564
3 0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1316381133
rs1316381133
1 1.000 0.040 18 60371445 missense variant T/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs146488435
rs146488435
5 0.851 0.080 17 63533914 missense variant C/G;T snv 8.0E-06; 6.4E-05 0.010 1.000 1 2018 2018
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: 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: 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: 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: 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: 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: 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: rs628031
rs628031
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs683369
rs683369
7 0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2006 2006
dbSNP: rs746906443
rs746906443
2 0.925 0.080 18 60371868 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs776234219
rs776234219
1 1.000 0.040 12 102419531 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2010 2010