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: rs7063116
rs7063116 		2 0.925 0.120 X 50492002 intergenic variant G/A snv 0.39 0.030 1.000 3 2011 2019
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1934179
rs1934179
DGKK
2 0.925 0.120 X 50439186 intron variant G/A snv 0.46 0.020 1.000 2 2011 2015
dbSNP: rs5000770
rs5000770
ARNT2
3 0.882 0.160 15 80424141 intron variant G/A snv 0.27 0.020 1.000 2 2012 2012
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: 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: 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: 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: rs1256062
rs1256062
ESR2
2 0.925 0.120 14 64236600 intron variant T/C snv 0.21 0.010 1.000 1 2007 2007
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: 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: rs17268974
rs17268974
STS
1 1.000 0.120 X 7318929 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1934190
rs1934190
DGKK
2 0.925 0.120 X 50400967 intron variant G/A;C snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs2069521
rs2069521 		4 0.851 0.240 15 74746626 upstream gene variant G/A snv 4.9E-02 0.010 1.000 1 2012 2012
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: rs2278705
rs2278705 		3 0.882 0.160 15 80402288 intron variant C/T snv 4.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs2472680
rs2472680
NR1I2
3 0.882 0.160 3 119808929 intron variant T/C snv 0.90 0.010 1.000 1 2012 2012
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: 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: rs4554617
rs4554617
DGKK
2 0.925 0.120 X 50460404 intron variant A/C snv 0.45 0.010 1.000 1 2019 2019