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: rs767523236
rs767523236
MPO
2 0.925 0.040 17 58279033 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs769442590
rs769442590
LPL
2 0.925 0.040 8 19960927 missense variant A/C;G snv 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs7833904
rs7833904
3 0.882 0.040 8 58505103 upstream gene variant A/T snv 0.55 0.010 < 0.001 1 2015 2015
dbSNP: rs79681911
rs79681911
3 0.882 0.040 11 18269755 missense variant G/A snv 2.1E-03 8.0E-04 0.010 1.000 1 2013 2013
dbSNP: rs8042271
rs8042271
3 0.882 0.040 15 89030987 intergenic variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs915014
rs915014
2 0.925 0.040 1 11789412 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs7439293
rs7439293
6 0.807 0.080 4 168756335 non coding transcript exon variant G/A snv 0.44 0.020 1.000 2 2007 2011
dbSNP: rs121918313
rs121918313
4 0.851 0.080 12 12164494 missense variant G/A snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs12762303
rs12762303
4 0.851 0.080 10 45373723 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2008 2008
dbSNP: rs1298417395
rs1298417395
4 0.882 0.080 1 176206716 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1440763451
rs1440763451
4 0.882 0.080 3 12416849 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1490867890
rs1490867890
3 0.882 0.080 1 150579475 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1866389
rs1866389
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.010 1.000 1 2003 2003
dbSNP: rs1867624
rs1867624
4 0.851 0.080 17 64309731 upstream gene variant C/T snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs201989364
rs201989364
3 0.882 0.080 3 186854295 missense variant A/G snv 6.4E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs2229116
rs2229116
9 0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2229238
rs2229238
5 0.851 0.080 1 154465420 3 prime UTR variant T/A;C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs2453021
rs2453021
6 0.807 0.080 1 7929506 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs28362286
rs28362286
6 0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs4076317
rs4076317
5 0.882 0.080 19 8364115 intron variant C/G snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs4252120
rs4252120
PLG
5 0.827 0.080 6 160722576 intron variant T/C;G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs4773144
rs4773144
7 0.827 0.080 13 110308365 intron variant A/G snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs4845617
rs4845617
4 0.882 0.080 1 154405422 5 prime UTR variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs4862423
rs4862423
4 0.882 0.080 4 184805394 intron variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs537765533
rs537765533
3 0.882 0.080 2 113132839 missense variant G/C snv 2.0E-05 0.010 1.000 1 2003 2003