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: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2012 2016
dbSNP: rs373584770
rs373584770
5 0.827 0.120 11 105030337 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3851634
rs3851634
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.710 1.000 1 2015 2015
dbSNP: rs1273593548
rs1273593548
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.020 0.500 2 2007 2017
dbSNP: rs7325927
rs7325927
2 0.925 0.040 13 107823165 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs3092993
rs3092993
5 0.827 0.040 11 108364388 intron variant C/A snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs779221554
rs779221554
1 1.000 0.040 X 109430395 missense variant C/A;T snv 0.700 0
dbSNP: rs374524467
rs374524467
5 0.827 0.040 4 110632961 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs11196067
rs11196067
10 0.752 0.160 10 112709306 intron variant A/T snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs648044
rs648044
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2008 2008
dbSNP: rs498872
rs498872
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.020 1.000 2 2011 2015
dbSNP: rs17748
rs17748
5 0.827 0.080 11 118657714 3 prime UTR variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2017 2017
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.710 1.000 3 2015 2018
dbSNP: rs72709458
rs72709458
5 0.882 0.040 5 1283640 intron variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2011 2015
dbSNP: rs2736098
rs2736098
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2011 2011
dbSNP: rs10464870
rs10464870
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.010 1.000 1 2010 2010
dbSNP: rs16906252
rs16906252
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.020 1.000 2 2013 2015
dbSNP: rs891835
rs891835
5 0.851 0.120 8 129479506 intron variant T/G snv 0.17 0.020 1.000 2 2010 2014
dbSNP: rs2853669
rs2853669
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs6470745
rs6470745
3 0.882 0.040 8 129629675 intron variant A/G snv 0.18 0.010 1.000 1 2014 2014