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: rs4554617
rs4554617
DGKK
2 0.925 0.120 X 50460404 intron variant A/C snv 0.45 0.710 1.000 2 2014 2019
dbSNP: rs4919686
rs4919686
CYP17A1 ; WBP1L ; CYP17A1-AS1
4 0.851 0.200 10 102832492 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2012 2019
dbSNP: rs1365908231
rs1365908231
ATF3
2 0.925 0.120 1 212619442 missense variant A/C snv 0.010 1.000 1 2008 2008
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: rs10762738
rs10762738
KCNMA1 ; KCNMA1-AS1
1 1.000 0.120 10 76935709 intron variant A/G snv 0.38 0.700 1.000 1 2014 2014
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs1801085
rs1801085
HOXA3 ; HOXA4 ; HOXA-AS2
1 1.000 0.120 7 27128971 splice region variant A/G snv 0.16 0.700 1.000 1 2014 2014
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: rs16937456
rs16937456
LOC105375894
1 1.000 0.120 8 71165720 intron variant A/G;T snv 0.700 1.000 1 2014 2014
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: 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: rs1064794281
rs1064794281
NR5A1
2 0.925 0.120 9 124500125 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs11749327
rs11749327
EXOC3
2 1.000 0.120 5 457146 non coding transcript exon variant C/A snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs17208368
rs17208368 		1 1.000 0.120 16 55038095 intergenic variant C/A snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs7811653
rs7811653 		1 1.000 0.120 7 46362671 intergenic variant C/A snv 5.8E-02 0.700 1.000 1 2014 2014
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: 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: 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: 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: 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: rs5919436
rs5919436 		2 0.925 0.120 X 67804478 intergenic variant C/G snv 4.0E-02 0.010 1.000 1 2013 2013
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: 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: 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