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: rs17268974
rs17268974
STS
1 1.000 0.120 X 7318929 intron variant T/A;C snv 0.010 1.000 1 2018 2018
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: rs483352820
rs483352820
AKR1C3
1 1.000 0.120 10 5102173 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs5934740
rs5934740
STS
1 1.000 0.120 X 7239611 intron variant G/A;C snv 0.010 1.000 1 2018 2018
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: rs5934913
rs5934913
STS
1 1.000 0.120 X 7294236 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
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: 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: rs7562326
rs7562326
SRD5A2
1 1.000 0.120 2 31573695 intron variant T/C snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs781971826
rs781971826
AKR1C2 ; LOC101928051
1 1.000 0.120 10 4995793 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs370173998
rs370173998
MAMLD1
2 0.925 0.120 X 150470724 missense variant C/T snv 3.3E-05 7.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs3816183
rs3816183
HAAO ; MTA3
2 0.925 0.120 2 42788579 missense variant T/C snv 0.80 0.80 0.010 1.000 1 2019 2019
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