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: 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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
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: rs1271572
rs1271572
ESR2
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.010 1.000 1 2017 2017
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: rs121907900
rs121907900
WT1
11 0.763 0.200 11 32392020 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs9332964
rs9332964
SRD5A2
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2017 2017
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
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: 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: 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: rs1037084691
rs1037084691
WT1
5 0.827 0.160 11 32392031 missense variant C/G;T snv 0.010 1.000 1 2019 2019
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: rs944050
rs944050
ESR2
5 0.827 0.280 14 64233327 splice region variant T/C snv 9.5E-02 7.9E-02 0.010 1.000 1 2016 2016
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: rs1057517779
rs1057517779
NR5A1
4 0.851 0.160 9 124493083 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs121918508
rs121918508
FGFR2
4 0.851 0.360 10 121488035 missense variant C/T snv 0.010 1.000 1 2019 2019
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: 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: 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: 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: rs1377148066
rs1377148066
CYP11A1
3 0.882 0.120 15 74339259 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019