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: rs1057516030
rs1057516030
DYRK1A ; LOC105372797
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1565308384
rs1565308384
MYRF ; TMEM258
5 0.827 0.200 11 61784321 frameshift variant -/A delins 0.700 0
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
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: rs4554617
rs4554617
DGKK
2 0.925 0.120 X 50460404 intron variant A/C snv 0.45 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: 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: 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: 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: rs1569309484
rs1569309484
RLIM
13 0.807 0.200 X 74591586 missense variant A/G snv 0.700 0
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: 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: rs5934842
rs5934842
STS
1 1.000 0.120 X 7264242 intron variant C/A;G snv 0.010 1.000 1 2018 2018
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: 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: 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: rs132630297
rs132630297
PHF6
6 0.925 0.280 X 134425256 stop gained C/A;T snv 0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
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