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: rs383830
rs383830 		3 0.882 0.040 5 100613278 intergenic variant A/T snv 0.76 0.020 1.000 2 2012 2015
dbSNP: rs2075674
rs2075674
TFR2
2 1.000 0.040 7 100627408 synonymous variant G/A snv 0.18 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs7385804
rs7385804
TFR2
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.010 < 0.001 1 2014 2014
dbSNP: rs7801190
rs7801190
SLC12A9
2 1.000 0.040 7 100860471 non coding transcript exon variant C/G snv 9.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs763802417
rs763802417
NOX1
5 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 0.010 1.000 1 2016 2016
dbSNP: rs2227631
rs2227631
SERPINE1
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.020 1.000 2 2006 2018
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2006 2018
dbSNP: rs8025174
rs8025174 		1 1.000 0.040 15 101279548 upstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs2288349
rs2288349
DNMT1
5 0.882 0.120 19 10146569 intron variant G/A snv 0.36 0.35 0.010 < 0.001 1 2015 2015
dbSNP: rs3736234
rs3736234
OLR1
4 0.851 0.040 12 10160535 non coding transcript exon variant G/A snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs11053646
rs11053646
OLR1
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.030 1.000 3 2003 2011
dbSNP: rs2228612
rs2228612
DNMT1
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs16999593
rs16999593
DNMT1
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs10420321
rs10420321
DNMT1
2 0.925 0.080 19 10189741 intron variant A/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.040 0.500 4 2007 2016
dbSNP: rs1420101
rs1420101
IL18R1 ; IL1RL1
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.010 < 0.001 1 2013 2013
dbSNP: rs13114738
rs13114738
SLC39A8
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2013 2016
dbSNP: rs223469
rs223469
LOC102723704
1 1.000 0.040 4 102778621 intergenic variant T/C snv 0.99 0.010 < 0.001 1 2009 2009
dbSNP: rs12147254
rs12147254
TRAF3
4 0.851 0.240 14 102799329 intron variant G/A snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 1.000 2 2016 2019
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 1 2011 2011
dbSNP: rs4919687
rs4919687
CYP17A1
14 0.742 0.160 10 102835491 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs3824755
rs3824755
CYP17A1
5 0.925 0.120 10 102836092 intron variant G/A;C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.010 1.000 1 2009 2009