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: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.900 1.000 18 2009 2019
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.870 1.000 9 2009 2017
dbSNP: rs4273729
rs4273729
5 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 0.810 1.000 2 2013 2017
dbSNP: rs10776934
rs10776934
1 1.000 0.080 9 135137855 regulatory region variant T/G snv 0.74 0.800 1.000 1 2012 2012
dbSNP: rs11966728
rs11966728
1 1.000 0.080 6 131955465 intron variant T/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs12972991
rs12972991
1 1.000 0.080 19 39241107 upstream gene variant A/C snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs12980602
rs12980602
1 1.000 0.080 19 39262180 upstream gene variant T/C snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs4803223
rs4803223
1 1.000 0.080 19 39255579 upstream gene variant A/G snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs8109886
rs8109886
1 1.000 0.080 19 39252122 upstream gene variant C/A snv 0.53 0.700 1.000 1 2009 2009
dbSNP: rs9275572
rs9275572
15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2017
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
dbSNP: rs1863918
rs1863918
4 0.882 0.160 5 179112381 3 prime UTR variant G/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2009 2009
dbSNP: rs2854116
rs2854116
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs2854117
rs2854117
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs8878
rs8878
5 0.827 0.280 4 76021147 3 prime UTR variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs6051702
rs6051702
3 0.882 0.120 20 3271278 intron variant A/C snv 0.19 0.010 1.000 1 2020 2020
dbSNP: rs965469
rs965469
1 1.000 0.080 20 3400902 intron variant T/C snv 0.20 0.800 1.000 1 2012 2012
dbSNP: rs2230201
rs2230201
C3
3 0.882 0.200 19 6713280 synonymous variant C/G;T snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2009 2009
dbSNP: rs2287886
rs2287886
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs4950928
rs4950928
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2012 2012