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 0.050 0.800 5 2006 2013
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.040 1.000 4 2013 2017
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs11696257
rs11696257
3 0.882 0.240 20 40642176 regulatory region variant C/T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs121909635
rs121909635
6 0.827 0.240 8 38426158 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
7 0.827 0.240 8 38414569 stop gained G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs12532
rs12532
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 1.000 1 2020 2020
dbSNP: rs1257891978
rs1257891978
1 1.000 0.120 10 101770499 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1269636220
rs1269636220
5 0.851 0.280 10 120865109 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1306416169
rs1306416169
5 0.851 0.280 9 137453808 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs147680216
rs147680216
11 0.742 0.160 2 218890244 missense variant G/A snv 2.1E-03 6.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs1487309678
rs1487309678
5 0.851 0.280 7 84014246 missense variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs17820943
rs17820943
2 0.925 0.120 20 40639876 regulatory region variant C/T snv 0.36 0.010 1.000 1 2020 2020
dbSNP: rs2106416
rs2106416
1 1.000 0.120 X 11298622 missense variant C/A;T snv 1.1E-05; 0.19 0.010 1.000 1 2014 2014
dbSNP: rs2235371
rs2235371
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2014 2014
dbSNP: rs227731
rs227731
4 0.882 0.120 17 56695877 intergenic variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs267606805
rs267606805
5 0.851 0.240 8 38414173 missense variant G/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs267606806
rs267606806
5 0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs306796
rs306796
1 1.000 0.120 9 121365057 intron variant C/T snv 0.33 0.010 1.000 1 2010 2010
dbSNP: rs368136178
rs368136178
1 1.000 0.120 X 80024158 missense variant G/A;T snv 5.5E-06; 8.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs3758249
rs3758249
3 0.882 0.200 9 97851858 intron variant T/C snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs3923086
rs3923086
2 0.925 0.200 17 65553370 intron variant A/C;G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2009 2009
dbSNP: rs397515445
rs397515445
7 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015