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: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 < 0.001 1 2010 2010
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 1.000 1 2010 2010
dbSNP: rs11465804
rs11465804
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs117026326
rs117026326
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2071286
rs2071286
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.700 1.000 1 2010 2010
dbSNP: rs2280714
rs2280714
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs2834167
rs2834167
11 0.752 0.360 21 33268483 missense variant A/G snv 0.33 0.25 0.010 1.000 1 2008 2008
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 < 0.001 1 2018 2018
dbSNP: rs5844572
rs5844572
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2019 2019
dbSNP: rs7044343
rs7044343
13 0.752 0.520 9 6254208 intron variant C/T snv 0.51 0.010 1.000 1 2016 2016
dbSNP: rs907715
rs907715
11 0.752 0.520 4 122613898 intron variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.020 1.000 2 2010 2012
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2010 2011
dbSNP: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1372834938
rs1372834938
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs204999
rs204999
13 0.763 0.480 6 32142202 intergenic variant A/G snv 0.28 0.700 1.000 1 2010 2010
dbSNP: rs2294020
rs2294020
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10168266
rs10168266
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11594656
rs11594656
9 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 0.010 < 0.001 1 2012 2012
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs12153855
rs12153855
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2075800
rs2075800
8 0.776 0.440 6 31810169 missense variant C/T snv 0.32 0.25 0.700 1.000 1 2010 2010