Source: ALL
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: rs1037084691
rs1037084691
WT1
5 0.827 0.160 11 32392031 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121907900
rs121907900
WT1
11 0.763 0.200 11 32392020 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
17 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 0
dbSNP: rs17268974
rs17268974
STS
1 1.000 0.120 X 7318929 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs3923341
rs3923341
STS
1 1.000 0.120 X 7300859 intron variant C/T snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs5934740
rs5934740
STS
1 1.000 0.120 X 7239611 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs5934842
rs5934842
STS
1 1.000 0.120 X 7264242 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs5934913
rs5934913
STS
1 1.000 0.120 X 7294236 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs5934937
rs5934937
STS
1 1.000 0.120 X 7323041 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs6639811
rs6639811
STS
1 1.000 0.120 X 7297762 intron variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1877031
rs1877031
STARD3
6 0.827 0.280 17 39657827 missense variant G/A snv 0.62 0.52 0.010 1.000 1 2018 2018
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.050 1.000 5 2005 2017
dbSNP: rs9332967
rs9332967
SRD5A2
7 0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 0.020 1.000 2 2017 2019
dbSNP: rs121434250
rs121434250
SRD5A2
7 0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs1393252721
rs1393252721
SRD5A2
2 0.925 0.120 2 31580686 missense variant G/A;C snv 8.7E-06 0.010 1.000 1 2017 2017
dbSNP: rs7562326
rs7562326
SRD5A2
1 1.000 0.120 2 31573695 intron variant T/C snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs780523225
rs780523225
SRD5A2
3 0.882 0.120 2 31529409 missense variant A/G;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs9332960
rs9332960
SRD5A2
3 0.882 0.200 2 31580885 stop gained G/A snv 1.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs9332964
rs9332964
SRD5A2
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs371433324
rs371433324
SMAD9
3 0.882 0.120 13 36865689 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1555706928
rs1555706928
SETBP1
8 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
dbSNP: rs118192175
rs118192175
RYR1
3 0.882 0.160 19 38494564 missense variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1569309484
rs1569309484
RLIM
13 0.807 0.200 X 74591586 missense variant A/G snv 0.700 0