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: 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: 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: 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: rs776188535
rs776188535
FGFR2
3 0.882 0.120 10 121485414 missense variant C/T snv 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918508
rs121918508
FGFR2
4 0.851 0.360 10 121488035 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs779566502
rs779566502
FGFR2
3 0.882 0.120 10 121520026 missense variant C/T snv 1.6E-05 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: rs745564225
rs745564225
NR5A1
2 0.925 0.120 9 124493110 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 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: 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: rs2999052
rs2999052
EEFSEC
1 1.000 0.120 3 128173194 intron variant T/C snv 0.30 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: 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: rs377263651
rs377263651
MAMLD1
3 0.882 0.120 X 150470307 missense variant A/G snv 1.1E-05 1.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs781975575
rs781975575
MAMLD1
3 0.882 0.120 X 150470715 missense variant G/A snv 5.5E-06 1.9E-05 0.010 1.000 1 2019 2019
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: 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: rs13124827
rs13124827 		1 1.000 0.120 4 156419058 intergenic variant C/T snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs4563609
rs4563609 		1 1.000 0.120 5 158490267 intron variant G/A snv 0.73 0.700 1.000 1 2014 2014
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: rs1365908231
rs1365908231
ATF3
2 0.925 0.120 1 212619442 missense variant A/C snv 0.010 1.000 1 2008 2008
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
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: rs6785358
rs6785358 		4 0.882 0.200 3 30602723 upstream gene variant G/A snv 0.84 0.010 1.000 1 2017 2017