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: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.960 25 2004 2016
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.917 12 2003 2016
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 0.917 12 2004 2015
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.070 0.857 7 2003 2014
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 1.000 6 2006 2011
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.050 1.000 5 2006 2013
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2007 2016
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 0.500 2 2012 2014
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.020 1.000 2 2015 2016
dbSNP: rs143810759
rs143810759
6 0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 0.020 1.000 2 2010 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs1160237842
rs1160237842
2 1.000 0.160 7 151078668 missense variant A/G snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1180868926
rs1180868926
2 0.925 0.200 3 9757095 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1181005582
rs1181005582
2 0.925 0.200 16 85767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1194327405
rs1194327405
1 1.000 0.160 X 71377774 missense variant G/A snv 1.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs121913021
rs121913021
3 0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 1996 1996
dbSNP: rs1225118391
rs1225118391
AGT
2 0.925 0.200 1 230710637 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2005 2005
dbSNP: rs1298314972
rs1298314972
2 1.000 0.160 7 151079887 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1312839452
rs1312839452
1 1.000 0.160 19 54982237 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs139002770
rs139002770
2 0.925 0.200 19 45352772 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1402607735
rs1402607735
2 0.925 0.160 19 43575436 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2010 2010