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: rs2075291
rs2075291
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.080 1.000 8 2003 2018
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.050 1.000 5 2007 2012
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.030 1.000 3 1998 2020
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.030 1.000 3 2006 2016
dbSNP: rs267606661
rs267606661
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.030 0.667 3 1993 1997
dbSNP: rs773891125
rs773891125
LPL
6 0.827 0.120 8 19955896 frameshift variant CT/- delins 0.030 1.000 3 2000 2016
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2001 2010
dbSNP: rs149808404
rs149808404
1 11 116790406 stop gained G/A;C snv 4.1E-05; 8.1E-06 0.020 1.000 2 2014 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2013
dbSNP: rs267606664
rs267606664
5 0.851 0.120 19 44908730 missense variant G/A;C snv 1.6E-04; 6.3E-06 0.020 1.000 2 1984 1997
dbSNP: rs2854117
rs2854117
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.020 1.000 2 2010 2011
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2010 2015
dbSNP: rs1057156731
rs1057156731
3 0.925 0.120 1 156137730 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs11206517
rs11206517
4 1.000 0.120 1 55060755 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs1168013
rs1168013
6 1.000 0.120 1 62531167 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs1169313
rs1169313
6 12 121004867 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121909397
rs121909397
3 0.925 0.080 16 869982 stop gained G/A;C snv 1.6E-04; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121918393
rs121918393
6 0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs121918394
rs121918394
5 0.882 0.080 19 44908786 missense variant A/C;G snv 6.5E-06 0.010 1.000 1 2000 2000
dbSNP: rs1337503417
rs1337503417
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs1414423445
rs1414423445
1 19 4171402 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1451659304
rs1451659304
2 1.000 0.040 16 868990 missense variant A/C snv 0.010 1.000 1 2014 2014