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: rs2191249
rs2191249
BRIP1
3 0.882 0.120 17 61758503 intron variant T/G snv 0.79 0.010 1.000 1 2007 2007
dbSNP: rs4988344
rs4988344
BRIP1
4 0.882 0.120 17 61847251 intron variant G/C snv 0.20 0.15 0.010 1.000 1 2007 2007
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2007 2007
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1834481
rs1834481
IL18
5 0.882 0.160 11 112153104 non coding transcript exon variant C/G snv 0.16 0.010 1.000 1 2008 2008
dbSNP: rs2229109
rs2229109
ABCB1
8 0.807 0.240 7 87550493 missense variant C/A;T snv 2.7E-02 0.010 1.000 1 2008 2008
dbSNP: rs35068177
rs35068177
ABCB1
3 0.882 0.120 7 87550213 synonymous variant T/C snv 2.2E-04 3.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs372150314
rs372150314
SHMT1
2 0.925 0.120 17 18347596 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2008 2008
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2008 2008
dbSNP: rs9909104
rs9909104
SHMT1
4 0.882 0.200 17 18344707 intron variant T/C snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.030 1.000 3 1999 2009
dbSNP: rs11683487
rs11683487
NMI
3 0.882 0.120 2 151286035 intron variant G/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs1256030
rs1256030
ESR2
6 0.827 0.240 14 64280452 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1256031
rs1256031
ESR2
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2009 2009
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2107425
rs2107425
MRPL23 ; H19
16 0.732 0.280 11 1999845 intron variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.010 1.000 1 2009 2009
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs4954956
rs4954956 		3 0.882 0.120 2 138787007 regulatory region variant C/T snv 0.25 0.010 1.000 1 2009 2009
dbSNP: rs533117495
rs533117495
ABCB1
5 0.827 0.200 7 87595783 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 2009 2009
dbSNP: rs7313833
rs7313833 		4 0.851 0.120 12 27930263 intergenic variant G/A snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs755100942
rs755100942
ARL11
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.010 1.000 1 2009 2009