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: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.030 0.667 3 2008 2019
dbSNP: rs1057519913
rs1057519913
3 0.925 0.120 1 11157172 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
5 0.851 0.240 1 11157174 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519915
rs1057519915
5 0.851 0.160 1 11109318 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519916
rs1057519916
4 0.882 0.160 1 11109320 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519917
rs1057519917
7 0.807 0.160 1 11124517 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11203289
rs11203289
3 0.882 0.240 1 17054012 missense variant G/A;C snv 4.1E-06; 3.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1131691061
rs1131691061
6 0.827 0.280 1 17054017 start lost C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2018 2018
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1332018
rs1332018
6 0.882 0.200 1 109740350 5 prime UTR variant G/T snv 0.64 0.66 0.010 1.000 1 2013 2013
dbSNP: rs13376700
rs13376700
1 1.000 0.120 1 51011971 intergenic variant T/A snv 0.48 0.700 1.000 1 2017 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 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 2016 2016
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 < 0.001 1 2019 2019
dbSNP: rs2050462
rs2050462
2 0.925 0.120 1 109930334 3 prime UTR variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2295080
rs2295080
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3021097
rs3021097
10 0.752 0.440 1 206773289 5 prime UTR variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs333951
rs333951
2 0.925 0.120 1 109909068 upstream gene variant T/C snv 0.74 0.010 < 0.001 1 2018 2018
dbSNP: rs3889728
rs3889728
AGT
2 1.000 0.120 1 230713085 intron variant C/T snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs4381241
rs4381241
2 0.925 0.120 1 50441766 intron variant T/C snv 0.51 0.710 1.000 1 2017 2017
dbSNP: rs587777894
rs587777894
9 0.776 0.240 1 11124516 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7483
rs7483
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2013 2013