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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 1.000 4 2012 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.040 1.000 4 2012 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2007 2008
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2008 2010
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2008 2010
dbSNP: rs2075820
rs2075820
10 0.790 0.200 7 30452621 missense variant C/T snv 0.27 0.28 0.020 0.500 2 2010 2011
dbSNP: rs10420321
rs10420321
2 0.925 0.080 19 10189741 intron variant A/G snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs10499563
rs10499563
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs10983755
rs10983755
7 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1130233
rs1130233
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs11536878
rs11536878
5 0.827 0.240 9 117709275 intron variant C/A snv 9.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1179251
rs1179251
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs12229892
rs12229892
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1330344
rs1330344
2 0.925 0.120 9 122369409 upstream gene variant C/T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1402686368
rs1402686368
1 1.000 0.040 7 101133793 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1550117
rs1550117
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs158572
rs158572
4 0.851 0.120 5 60943616 intron variant G/A snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs1640827
rs1640827
3 0.882 0.120 1 223138265 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs17163737
rs17163737
3 0.882 0.120 1 223129809 intron variant G/T snv 7.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs1878672
rs1878672
3 0.882 0.080 1 206770368 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014