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 0.100 0.895 19 2002 2020
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.917 12 2000 2019
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.875 8 2005 2019
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.760 0.857 7 2008 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.060 1.000 6 1999 2007
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.060 0.833 6 2003 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.060 0.833 6 2005 2019
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.060 0.833 6 2008 2017
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.050 0.600 5 2011 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.040 1.000 4 2011 2018
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.030 0.667 3 2005 2012
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.030 1.000 3 2011 2019
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.030 1.000 3 2004 2008
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.030 1.000 3 2004 2013
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.030 0.667 3 2006 2014
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.030 0.667 3 2011 2020
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.030 0.333 3 2011 2018
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.720 1.000 3 2019 2019
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.030 1.000 3 2013 2014
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.030 1.000 3 2007 2016
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 1.000 3 2014 2019
dbSNP: rs11571836
rs11571836
6 0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 0.020 1.000 2 2012 2014
dbSNP: rs11887534
rs11887534
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.020 0.500 2 2008 2009
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.710 1.000 2 2014 2019
dbSNP: rs1234442507
rs1234442507
3 1.000 0.040 20 59022915 frameshift variant AG/- del 4.0E-06 0.020 1.000 2 2005 2007