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: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.020 0.500 2 2013 2015
dbSNP: rs35975099
rs35975099
1 3 172505416 downstream gene variant -/GAGT delins 0.010 1.000 1 2015 2015
dbSNP: rs200914569
rs200914569
1 16 75408246 intron variant -/GC ins 0.700 1.000 1 2016 2016
dbSNP: rs202206511
rs202206511
1 1 156486509 intron variant -/T delins 0.700 1.000 2 2012 2013
dbSNP: rs13078967
rs13078967
1 3 154572157 regulatory region variant A/C snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs7217270
rs7217270
2 1.000 0.040 17 3518181 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs186166891
rs186166891
1 7 40367277 intron variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11624776
rs11624776
3 14 93129246 regulatory region variant A/C;T snv 0.700 1.000 2 2016 2016
dbSNP: rs3810651
rs3810651
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.020 1.000 2 2013 2018
dbSNP: rs10803531
rs10803531
1 2 132469969 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1923243
rs1923243
1 1 73402703 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3754701
rs3754701
4 0.882 0.120 2 237858561 upstream gene variant A/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.968 31 2000 2019
dbSNP: rs6275
rs6275
7 0.851 0.160 11 113412755 synonymous variant A/G snv 0.64 0.58 0.040 0.750 4 2012 2015
dbSNP: rs9349379
rs9349379
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.800 1.000 4 2012 2016
dbSNP: rs10915437
rs10915437
2 1.000 0.040 1 4122946 intergenic variant A/G snv 0.29 0.820 0.667 3 2013 2017
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2012 2017
dbSNP: rs2271933
rs2271933
9 0.807 0.080 1 31626924 missense variant A/G snv 0.56 0.50 0.020 1.000 2 2018 2019
dbSNP: rs2506142
rs2506142
1 10 33179196 3 prime UTR variant A/G snv 0.21 0.710 1.000 2 2016 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 1.000 2 2009 2015
dbSNP: rs10218452
rs10218452
1 1 3159033 intron variant A/G snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10871745
rs10871745
1 18 57511578 intergenic variant A/G snv 0.71 0.700 1.000 1 2016 2016
dbSNP: rs11594111
rs11594111
1 10 14903407 3 prime UTR variant A/G snv 9.5E-02 0.800 1.000 1 2013 2013