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: 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: 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: rs28939085
rs28939085
HSD17B3
3 0.882 0.240 9 96240885 missense variant G/A snv 2.0E-05 2.1E-05 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: 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: 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: 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 0.720 1.000 2 2011 2015
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: 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: 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: 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: 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: 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: 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: rs6932902
rs6932902
ESR1
3 0.882 0.160 6 152055389 intron variant G/A snv 0.22 0.010 1.000 1 2012 2012
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: rs3816183
rs3816183
HAAO ; MTA3
2 0.925 0.120 2 42788579 missense variant T/C snv 0.80 0.80 0.710 1.000 2 2014 2019
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