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: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1569788
rs1569788
2 0.925 0.080 6 152007481 intron variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1801157
rs1801157
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs4646
rs4646
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.010 1.000 1 2011 2011
dbSNP: rs75398746
rs75398746
3 0.882 0.080 X 85308188 missense variant C/T snv 2.7E-03 3.5E-03 0.010 1.000 1 2011 2011
dbSNP: rs140531439
rs140531439
2 0.925 0.080 1 22129830 synonymous variant C/A;T snv 1.2E-05; 3.2E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs1435998287
rs1435998287
SF1
2 0.925 0.080 11 64778294 synonymous variant C/T snv 1.4E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs146180399
rs146180399
2 0.925 0.080 6 139373341 missense variant G/T snv 1.6E-04 5.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs20558
rs20558
2 0.925 0.080 1 183125412 missense variant T/C snv 0.58 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2076740
rs2076740
TG
5 0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 0.010 1.000 1 2012 2012
dbSNP: rs28943592
rs28943592
2 0.925 0.080 5 119536489 missense variant C/T snv 7.0E-03 2.8E-03 0.010 1.000 1 2012 2012
dbSNP: rs587778430
rs587778430
KDR
7 0.807 0.280 4 55110466 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs770254254
rs770254254
2 0.925 0.080 2 162147505 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs246246
rs246246
3 0.925 0.080 5 129721066 intron variant G/T snv 0.94 0.710 1.000 2 2009 2013
dbSNP: rs10407022
rs10407022
3 0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74 0.010 < 0.001 1 2013 2013
dbSNP: rs104894765
rs104894765
2 0.925 0.160 X 50916132 missense variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11077
rs11077
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs2257082
rs2257082
2 1.000 0.080 6 43524840 synonymous variant G/A snv 0.30 0.26 0.010 1.000 1 2013 2013
dbSNP: rs61722009
rs61722009
2 0.925 0.120 7 150997170 intron variant AGGGGTGAGGAAGTCTAGACCTGCTGC/-;AGGGGTGAGGAAGTCTAGACCTGCTGCAGGGGTGAGGAAGTCTAGACCTGCTGC delins 0.010 1.000 1 2013 2013
dbSNP: rs6877842
rs6877842
7 0.807 0.320 5 31532531 intron variant G/C snv 0.16 0.010 1.000 1 2013 2013
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 2013 2013