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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 0.500 2 2007 2011
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2013 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2011 2013
dbSNP: rs1925950
rs1925950
1 1 156480948 missense variant G/A;C snv 0.62 0.800 1.000 2 2012 2016
dbSNP: rs2049046
rs2049046
6 0.827 0.200 11 27702228 intron variant T/A snv 0.48 0.020 1.000 2 2015 2017
dbSNP: rs2195450
rs2195450
3 0.925 0.040 5 153491449 intron variant G/A snv 0.17 0.020 1.000 2 2015 2018
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2010 2017
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 0.500 2 2005 2014
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: rs228648
rs228648
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.020 1.000 2 2016 2017
dbSNP: rs2506142
rs2506142
1 10 33179196 3 prime UTR variant A/G snv 0.21 0.710 1.000 2 2016 2018
dbSNP: rs2890565
rs2890565
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.020 1.000 2 2016 2017
dbSNP: rs3790455
rs3790455
1 1 156486509 intron variant C/T snv 0.54 0.800 1.000 2 2012 2013
dbSNP: rs3810651
rs3810651
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.020 1.000 2 2013 2018
dbSNP: rs4363087
rs4363087
3 0.925 0.160 7 73703866 3 prime UTR variant T/C snv 0.42 0.32 0.020 1.000 2 2009 2012
dbSNP: rs4910165
rs4910165
2 11 10652497 intron variant C/G snv 0.78 0.700 1.000 2 2016 2016
dbSNP: rs548294
rs548294
2 1.000 0.040 5 153488877 upstream gene variant T/C snv 0.62 0.020 < 0.001 2 2015 2018
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2010 2014
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 0.500 2 2001 2004
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.020 0.500 2 2004 2007
dbSNP: rs6790925
rs6790925
3 0.925 0.040 3 30438593 intergenic variant C/G;T snv 0.810 0.500 2 2013 2014
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: rs7239728
rs7239728
1 18 9590436 intron variant G/C snv 0.36 0.020 0.500 2 2013 2015
dbSNP: rs743506
rs743506
4 0.925 0.120 7 151009827 intron variant G/A;C snv 0.020 1.000 2 2011 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 0.500 2 2008 2015