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: 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: rs1020397
rs1020397
ARNT2
3 0.882 0.160 15 80426396 intron variant G/C;T snv 0.010 1.000 1 2012 2012
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: rs1057517779
rs1057517779
NR5A1
4 0.851 0.160 9 124493083 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1064794281
rs1064794281
NR5A1
2 0.925 0.120 9 124500125 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1110061
rs1110061
NR5A1
7 0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10 0.010 1.000 1 2012 2012
dbSNP: rs1110062
rs1110062
NR5A1
2 0.925 0.120 9 124500585 synonymous variant C/A;T snv 2.2E-02 0.010 1.000 1 2012 2012
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: rs121907900
rs121907900
WT1
11 0.763 0.200 11 32392020 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121918508
rs121918508
FGFR2
4 0.851 0.360 10 121488035 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1271572
rs1271572
ESR2
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1365908231
rs1365908231
ATF3
2 0.925 0.120 1 212619442 missense variant A/C snv 0.010 1.000 1 2008 2008
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: rs143136847
rs143136847
CCDC59
1 1.000 0.120 12 82354560 missense variant T/C;G snv 2.6E-05; 2.8E-03 0.700 1.000 1 2014 2014
dbSNP: rs146450738
rs146450738
DHRS11
2 0.925 0.120 17 36598163 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs16937456
rs16937456
LOC105375894
1 1.000 0.120 8 71165720 intron variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2066479
rs2066479
HSD17B3
7 0.790 0.160 9 96235528 missense variant C/A;G;T snv 7.2E-02 0.010 1.000 1 2010 2010
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: rs3743104
rs3743104
GREM1
1 1.000 0.120 15 32731784 3 prime UTR variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs3757824
rs3757824
AHR ; LOC101927609
3 0.882 0.160 7 17296411 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs4599945
rs4599945
DGKK
2 0.925 0.120 X 50380968 intron variant G/A;T snv 0.010 < 0.001 1 2015 2015
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: rs765057534
rs765057534
CYP19A1 ; MIR4713HG
4 0.851 0.240 15 51222402 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
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