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: 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: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs786203623
rs786203623
MLH1
2 0.925 0.040 3 37017520 missense variant T/A;C snv 0.010 1.000 1 2012 2012
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: rs864622096
rs864622096
PMS2
2 0.925 0.040 7 5986916 missense variant G/A snv 0.010 1.000 1 2012 2012
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: 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: 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: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.020 1.000 2 2010 2012
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 0.500 2 2007 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2012 2013
dbSNP: rs7174015
rs7174015
USP8
3 0.925 0.040 15 50424871 intron variant G/A;T snv 0.020 1.000 2 2015 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2007 2016
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: rs12097821
rs12097821 		4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2477686
rs2477686
PLCH2
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs6080550
rs6080550
LOC100289473
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.700 1.000 1 2011 2011