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: rs1365908231
rs1365908231
ATF3
2 0.925 0.120 1 212619442 missense variant A/C snv 0.010 1.000 1 2008 2008
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: 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: 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: 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: rs1918690
rs1918690
DNAH6
1 1.000 0.120 2 84679791 intron variant T/C snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs780523225
rs780523225
SRD5A2
3 0.882 0.120 2 31529409 missense variant A/G;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
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: rs9332960
rs9332960
SRD5A2
3 0.882 0.200 2 31580885 stop gained G/A snv 1.7E-05 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: rs988958
rs988958 		1 1.000 0.120 2 42060166 downstream gene variant G/A snv 0.25 0.700 1.000 1 2014 2014
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: 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: rs6785358
rs6785358 		4 0.882 0.200 3 30602723 upstream gene variant G/A snv 0.84 0.010 1.000 1 2017 2017
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: 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: rs4563609
rs4563609 		1 1.000 0.120 5 158490267 intron variant G/A snv 0.73 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: rs417096
rs417096 		1 1.000 0.120 6 39760057 intergenic variant G/A;C snv 0.53 0.700 1.000 1 2014 2014
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: 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: 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