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: 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: 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
dbSNP: rs6499755
rs6499755 		2 0.925 0.120 16 55307223 intron variant T/C snv 0.30 0.710 1.000 2 2014 2019
dbSNP: rs10214930
rs10214930
TAX1BP1
1 1.000 0.120 7 27745330 intron variant G/A snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs1064794281
rs1064794281
NR5A1
2 0.925 0.120 9 124500125 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs10762738
rs10762738
KCNMA1 ; KCNMA1-AS1
1 1.000 0.120 10 76935709 intron variant A/G snv 0.38 0.700 1.000 1 2014 2014
dbSNP: rs10979
rs10979
PHACTR2 ; PHACTR2-AS1
1 1.000 0.120 6 143568902 intron variant G/A snv 0.62 0.700 1.000 1 2014 2014
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: rs11749327
rs11749327
EXOC3
2 1.000 0.120 5 457146 non coding transcript exon variant C/A snv 0.20 0.700 1.000 1 2014 2014
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: rs13124827
rs13124827 		1 1.000 0.120 4 156419058 intergenic variant C/T snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs1365908231
rs1365908231
ATF3
2 0.925 0.120 1 212619442 missense variant A/C snv 0.010 1.000 1 2008 2008
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
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: rs143136847
rs143136847
CCDC59
1 1.000 0.120 12 82354560 missense variant T/C;G snv 2.6E-05; 2.8E-03 0.700 1.000 1 2014 2014
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: rs16937456
rs16937456
LOC105375894
1 1.000 0.120 8 71165720 intron variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs17208368
rs17208368 		1 1.000 0.120 16 55038095 intergenic variant C/A snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs17262815
rs17262815
CCDC26
1 1.000 0.120 8 129478919 intron variant T/C snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs17747401
rs17747401
ADK
1 1.000 0.120 10 74640406 intron variant C/T snv 0.27 0.700 1.000 1 2014 2014
dbSNP: rs1801085
rs1801085
HOXA3 ; HOXA4 ; HOXA-AS2
1 1.000 0.120 7 27128971 splice region variant A/G snv 0.16 0.700 1.000 1 2014 2014