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: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs12342
rs12342
4 0.851 0.240 12 1787714 3 prime UTR variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12659
rs12659
2 0.925 0.120 21 45531642 synonymous variant A/G snv 0.58 0.57 0.010 1.000 1 2015 2015
dbSNP: rs13412
rs13412
1 1.000 0.120 17 41811190 missense variant T/A;C snv 0.38 0.34 0.010 1.000 1 2019 2019
dbSNP: rs147377392
rs147377392
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.010 1.000 1 2004 2004
dbSNP: rs1537378
rs1537378
4 0.882 0.160 9 22061615 intron variant A/G snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 1.000 2 2008 2014
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2014 2018
dbSNP: rs1799895
rs1799895
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2008 2008
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2015 2019
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs1801273
rs1801273
3 0.925 0.200 2 88126256 missense variant C/T snv 1.2E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs2066715
rs2066715
7 0.807 0.160 9 104825752 missense variant C/T snv 8.2E-02 5.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2008 2017
dbSNP: rs2072592
rs2072592
2 0.925 0.120 12 102419854 intron variant C/T snv 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs2077777
rs2077777
1 1.000 0.120 4 26322296 splice region variant G/C snv 8.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs2106261
rs2106261
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2108622
rs2108622
20 0.742 0.280 19 15879621 missense variant C/T snv 0.27 0.22 0.010 1.000 1 2008 2008
dbSNP: rs2162679
rs2162679
6 0.851 0.240 12 102477481 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2018 2018