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: rs1870050
rs1870050
GLDN
5 0.827 0.160 15 51344354 intron variant A/C snv 6.0E-02 0.020 1.000 2 2007 2007
dbSNP: rs6259
rs6259
SHBG
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.020 1.000 2 2007 2008
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
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: 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: rs2676530
rs2676530
HSD17B1 ; LOC108783654
2 0.925 0.080 17 42553937 non coding transcript exon variant C/A;G;T snv 0.25 0.010 1.000 1 2007 2007
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: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs397517202
rs397517202
PIK3CA
4 0.851 0.320 3 179234230 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs4987886
rs4987886
ATM
2 0.925 0.080 11 108225326 5 prime UTR variant A/T snv 3.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs587778720
rs587778720
TP53
31 0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
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
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: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2008 2009
dbSNP: rs63750875
rs63750875
MSH2
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.020 1.000 2 2008 2011
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: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2008 2009
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 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: rs1182154114
rs1182154114
SULT1A1
2 0.925 0.080 16 28623160 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1233753551
rs1233753551
CYP1B1 ; CYP1B1-AS1
4 0.851 0.160 2 38074751 missense variant C/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.010 1.000 1 2008 2008
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