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: rs140511594
rs140511594
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs1422329310
rs1422329310
2 0.925 0.280 10 94265844 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2239785
rs2239785
5 0.827 0.240 22 36265284 missense variant G/A snv 0.79 0.68 0.700 1.000 1 2010 2010
dbSNP: rs267606879
rs267606879
2 0.925 0.080 14 104703428 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3802829
rs3802829
2 0.925 0.080 11 101583461 missense variant G/A snv 8.2E-02 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs6508
rs6508
3 0.882 0.160 11 32438918 non coding transcript exon variant G/A snv 8.3E-02 0.16 0.010 1.000 1 2005 2005
dbSNP: rs74315344
rs74315344
4 0.851 0.080 1 179575806 missense variant G/A snv 2.8E-03 4.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs748203170
rs748203170
1 1.000 0.080 1 179551346 missense variant G/A snv 8.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs761613959
rs761613959
4 0.851 0.080 1 155187356 stop gained G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs267602852
rs267602852
WT1
7 0.827 0.160 11 32417631 missense variant G/A snv 0.700 0
dbSNP: rs753350907
rs753350907
5 0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs530391015
rs530391015
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs188942711
rs188942711
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121434390
rs121434390
2 0.925 0.080 11 101504634 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs119473033
rs119473033
11 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
dbSNP: rs1186292917
rs1186292917
1 1.000 0.080 14 104703420 frameshift variant GC/- delins 0.010 1.000 1 2018 2018
dbSNP: rs149117087
rs149117087
1 1.000 0.080 2 227022069 missense variant T/A snv 8.5E-04 2.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs779430565
rs779430565
3 0.882 0.080 11 101504316 missense variant T/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs121908417
rs121908417
2 0.925 0.080 19 38710307 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs2234591
rs2234591
WT1
2 0.925 0.080 11 32399873 intron variant T/C snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs4806213
rs4806213
1 1.000 0.080 19 35831699 missense variant T/C snv 9.7E-02 0.11 0.010 1.000 1 2019 2019
dbSNP: rs754313620
rs754313620
2 0.925 0.080 14 104714452 missense variant T/C;G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs71785313
rs71785313
5 0.882 0.120 22 36265996 inframe deletion TTATAA/- delins 0.700 0