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: rs999947969
rs999947969
7 0.827 0.080 7 80671145 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs9989419
rs9989419
11 0.882 0.120 16 56951227 regulatory region variant A/G snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs995922697
rs995922697
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2007 2007
dbSNP: rs9818870
rs9818870
9 0.807 0.200 3 138403280 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs9797861
rs9797861
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs974819
rs974819
6 0.807 0.080 11 103789839 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs972655070
rs972655070
3 0.882 0.040 1 161040282 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2020 2020
dbSNP: rs965384857
rs965384857
LPL
5 0.827 0.160 8 19954234 missense variant G/A snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.020 1.000 2 2013 2018
dbSNP: rs9534275
rs9534275
7 0.851 0.080 13 32366208 intron variant C/A snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs9349379
rs9349379
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.020 1.000 2 2016 2019
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2005 2013
dbSNP: rs9332978
rs9332978
5 0.882 0.040 1 46942278 upstream gene variant T/C snv 7.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs9289231
rs9289231
5 0.827 0.120 3 124055231 intergenic variant T/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs9282541
rs9282541
13 0.790 0.160 9 104858554 missense variant G/A snv 1.3E-02 4.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs9267551
rs9267551
7 0.807 0.160 6 31730180 5 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs911119
rs911119
9 0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs908832
rs908832
4 0.851 0.120 9 137018032 missense variant A/C;G snv 0.97 0.96 0.010 < 0.001 1 2006 2006
dbSNP: rs901895948
rs901895948
3 0.882 0.040 20 38131160 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 0.500 2 2004 2009
dbSNP: rs897876
rs897876
4 0.882 0.040 2 65564447 intron variant C/T snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs886060062
rs886060062
3 0.882 0.040 5 143400551 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs884164
rs884164
2 0.925 0.040 19 4521613 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs869109213
rs869109213
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.010 1.000 1 2019 2019
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.080 1.000 8 2002 2017