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: rs768767532
rs768767532
PRL ; CASC15
1 1.000 0.040 6 22296961 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs9340958
rs9340958
ESR1
1 1.000 0.040 6 152009538 intron variant C/T snv 8.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs9340978
rs9340978
ESR1
1 1.000 0.040 6 152012810 intron variant G/A snv 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2013 2018
dbSNP: rs10269148
rs10269148
STRA8
2 0.925 0.040 7 135230056 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1059060
rs1059060
PMS2
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11531577
rs11531577
STAG3
2 1.000 0.040 7 100180604 missense variant G/T snv 0.18 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1248142939
rs1248142939
PMS2
2 0.925 0.040 7 5992006 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs17420802
rs17420802
PMS2
2 0.925 0.040 7 5977709 missense variant T/A;C snv 2.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs587781908
rs587781908
PMS2
2 0.925 0.040 7 6005973 missense variant A/G snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs763468927
rs763468927
PMS2
2 0.925 0.040 7 5977755 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs864622096
rs864622096
PMS2
2 0.925 0.040 7 5986916 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs12348
rs12348
TUSC1
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs140506267
rs140506267
DMRT1
2 0.925 0.040 9 894044 missense variant A/G snv 2.7E-03 1.3E-03 0.010 1.000 1 2020 2020
dbSNP: rs7867029
rs7867029
LOC107987083
3 0.925 0.040 9 78405502 intergenic variant G/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs150771661
rs150771661
DDX25
1 1.000 0.040 11 125911413 missense variant G/A snv 1.7E-04 9.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs769642496
rs769642496
WT1 ; WT1-AS
1 1.000 0.040 11 32434957 missense variant G/A snv 6.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.700 1.000 1 2011 2011
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2016 2016
dbSNP: rs4474514
rs4474514
KITLG
6 0.827 0.240 12 88560182 intron variant G/A snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs995030
rs995030
KITLG
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs12870438
rs12870438
EPSTI1
3 0.925 0.040 13 42906069 intron variant G/A snv 0.27 0.020 1.000 2 2015 2018
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs10129954
rs10129954
DPF3
2 1.000 0.040 14 72683993 intron variant C/T snv 0.49 0.010 1.000 1 2018 2018