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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 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: rs121918508
rs121918508
FGFR2
4 0.851 0.360 10 121488035 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1377148066
rs1377148066
CYP11A1
3 0.882 0.120 15 74339259 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs2211122
rs2211122
DGKK
2 0.925 0.120 X 50459752 intron variant T/C snv 0.45 0.010 1.000 1 2019 2019
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: rs377263651
rs377263651
MAMLD1
3 0.882 0.120 X 150470307 missense variant A/G snv 1.1E-05 1.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs5915254
rs5915254 		2 0.925 0.120 X 50501281 intergenic variant G/A snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs7058226
rs7058226 		2 0.925 0.120 X 50483867 intergenic variant G/A snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs776188535
rs776188535
FGFR2
3 0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs779566502
rs779566502
FGFR2
3 0.882 0.120 10 121520026 missense variant C/T snv 1.6E-05 0.010 1.000 1 2019 2019
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: rs781975575
rs781975575
MAMLD1
3 0.882 0.120 X 150470715 missense variant G/A snv 5.5E-06 1.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs11091748
rs11091748
DGKK
2 0.925 0.120 X 50414986 intron variant A/G snv 0.39 0.010 1.000 1 2018 2018
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: rs12171755
rs12171755
DGKK
2 0.925 0.120 X 50436751 intron variant C/T snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs554416372
rs554416372
WT1
5 0.827 0.160 11 32396397 missense variant C/A;G;T snv 2.0E-05; 8.0E-06; 9.6E-05 0.010 1.000 1 2018 2018
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: rs121907900
rs121907900
WT1
11 0.763 0.200 11 32392020 missense variant G/A snv 0.010 1.000 1 2017 2017
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: rs6785358
rs6785358 		4 0.882 0.200 3 30602723 upstream gene variant G/A snv 0.84 0.010 1.000 1 2017 2017
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