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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 1.000 9 2000 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.070 0.714 7 2003 2016
dbSNP: rs924080
rs924080
3 0.882 0.240 1 67294457 intergenic variant T/C snv 0.45 0.840 0.800 5 2010 2019
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.830 0.800 5 2010 2017
dbSNP: rs17375018
rs17375018
7 0.790 0.360 1 67189464 intron variant G/A snv 0.29 0.050 1.000 5 2010 2019
dbSNP: rs3743930
rs3743930
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.050 0.800 5 2000 2015
dbSNP: rs1518111
rs1518111
9 0.790 0.360 1 206771300 intron variant T/C snv 0.71 0.830 1.000 4 2010 2015
dbSNP: rs61752717
rs61752717
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.040 1.000 4 2000 2015
dbSNP: rs1495965
rs1495965
8 0.790 0.280 1 67287825 intergenic variant C/T snv 0.55 0.820 1.000 3 2010 2017
dbSNP: rs17482078
rs17482078
4 0.882 0.240 5 96783162 missense variant C/G;T snv 2.8E-05; 0.15 0.820 1.000 3 2013 2019
dbSNP: rs2617170
rs2617170
1 1.000 0.200 12 10408358 missense variant T/C snv 0.63 0.61 0.820 1.000 3 2013 2017
dbSNP: rs17810546
rs17810546
7 0.827 0.440 3 159947262 intron variant A/G snv 8.2E-02 0.810 1.000 3 2013 2015
dbSNP: rs7574070
rs7574070
1 1.000 0.200 2 191145762 intron variant A/C snv 0.55 0.810 1.000 3 2012 2015
dbSNP: rs11209032
rs11209032
10 0.752 0.400 1 67274409 upstream gene variant G/A snv 0.30 0.030 1.000 3 2010 2019
dbSNP: rs116799036
rs116799036
1 1.000 0.200 6 31381371 downstream gene variant G/A snv 0.030 1.000 3 2013 2015
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.030 0.667 3 2000 2013
dbSNP: rs1554286
rs1554286
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.030 1.000 3 2012 2015
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.030 1.000 3 2001 2016
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.030 0.667 3 2012 2017
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2005 2014
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.030 1.000 3 2014 2019
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.030 1.000 3 1996 2013
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 1.000 3 2000 2013
dbSNP: rs7616215
rs7616215
2 0.925 0.280 3 46164194 intron variant C/T snv 0.62 0.810 1.000 2 2013 2015
dbSNP: rs4947296
rs4947296
5 0.851 0.440 6 31090401 intergenic variant T/A;C snv 0.800 1.000 2 2012 2013