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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2009 2013
dbSNP: rs80357115
rs80357115
BRCA1
8 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs11196418
rs11196418
CASP7
4 0.925 0.080 10 113678707 upstream gene variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs11196445
rs11196445
CASP7
2 0.925 0.080 10 113710131 intron variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1451539938
rs1451539938
CD82
3 0.925 0.080 11 44618361 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1059234
rs1059234
CDKN1A
10 0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13 0.010 < 0.001 1 2015 2015
dbSNP: rs34330
rs34330
CDKN1B ; GPR19
15 0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2011 2011
dbSNP: rs3759216
rs3759216
CDKN1B ; GPR19
2 0.925 0.080 12 12715152 intron variant G/A snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2009 2009
dbSNP: rs8135424
rs8135424
CHEK2
4 0.925 0.080 22 28689804 intron variant G/A snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 0.750 4 2004 2013
dbSNP: rs4633
rs4633
COMT ; MIR4761
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2008 2008
dbSNP: rs4818
rs4818
COMT ; MIR4761
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2008 2008
dbSNP: rs5031015
rs5031015
COMT ; MIR4761
2 0.925 0.080 22 19963580 missense variant G/A snv 6.9E-04 2.5E-03 0.010 1.000 1 2008 2008
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.020 1.000 2 2008 2013
dbSNP: rs28566535
rs28566535
CYP19A1
4 0.851 0.120 15 51308944 intron variant A/C;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs752760
rs752760
CYP19A1
2 0.925 0.080 15 51339282 upstream gene variant C/T snv 0.57 0.010 1.000 1 2007 2007
dbSNP: rs727479
rs727479
CYP19A1 ; MIR4713 ; MIR4713HG
10 0.790 0.240 15 51242350 intron variant C/A;T snv 0.020 1.000 2 2009 2016
dbSNP: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2012 2012
dbSNP: rs1065779
rs1065779
CYP19A1 ; MIR4713HG
3 0.882 0.120 15 51212614 intron variant A/C;T snv 0.43 0.010 1.000 1 2007 2007
dbSNP: rs4775936
rs4775936
CYP19A1 ; MIR4713HG
7 0.790 0.200 15 51243825 intron variant C/T snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs700519
rs700519
CYP19A1 ; MIR4713HG
11 0.752 0.280 15 51215771 missense variant G/A snv 7.6E-02 8.0E-02 0.010 1.000 1 2007 2007