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: rs10500279
rs10500279
1 1.000 0.080 19 38544428 intron variant G/C snv 5.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs1050606
rs1050606
2 1.000 0.080 4 121696891 5 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs1178625972
rs1178625972
1 1.000 0.080 22 39966117 missense variant C/G snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1277204441
rs1277204441
ACE
2 0.925 0.080 17 63479775 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1349963459
rs1349963459
2 0.925 0.080 14 73170901 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1436109
rs1436109
3 1.000 0.080 11 113120896 intron variant G/T snv 8.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs17132261
rs17132261
2 1.000 0.080 5 110672513 intron variant C/T snv 4.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs17168525
rs17168525
1 1.000 0.080 7 135928514 3 prime UTR variant G/A snv 1.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs1957757
rs1957757
1 1.000 0.080 14 61730230 intron variant T/C snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs1974201
rs1974201
1 1.000 0.080 6 131889981 intron variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2071090
rs2071090
1 1.000 0.080 19 38524814 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs2278239
rs2278239
1 1.000 0.080 5 79737483 missense variant A/C;G snv 0.14; 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs2292462
rs2292462
NMB
2 1.000 0.080 15 84657523 intron variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs238234
rs238234
1 1.000 0.080 17 4980523 missense variant C/A;G;T snv 5.6E-05; 0.75; 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs2960321
rs2960321
1 1.000 0.080 19 38557523 intron variant C/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs4129218
rs4129218
1 1.000 0.080 12 65564881 intron variant G/A snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs75404003
rs75404003
1 1.000 0.080 18 62361277 intron variant C/- delins 0.010 1.000 1 2017 2017
dbSNP: rs755492182
rs755492182
3 0.882 0.080 1 236735677 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs756529
rs756529
1 1.000 0.080 20 49394471 intron variant G/A snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs9402349
rs9402349
1 1.000 0.080 6 131863968 intron variant A/C snv 9.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs9594782
rs9594782
1 1.000 0.080 13 42577050 intron variant T/C snv 4.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1060501439
rs1060501439
4 0.925 0.080 14 23424938 missense variant T/A snv 0.700 0
dbSNP: rs768079285
rs768079285
2 1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06 0.700 0
dbSNP: rs869312687
rs869312687
8 0.925 0.080 1 155910695 missense variant T/G snv 0.700 0
dbSNP: rs397516005
rs397516005
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.040 1.000 4 2015 2019