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: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121913286
rs121913286
PIK3CA
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 0
dbSNP: rs1456079929
rs1456079929
PGR
5 0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 0.500 2 2003 2015
dbSNP: rs2070074
rs2070074
GALT
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.010 1.000 1 2003 2003
dbSNP: rs146314922
rs146314922
NLRP2
2 0.925 0.120 19 54982828 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1799950
rs1799950
BRCA1
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2005 2005
dbSNP: rs4987208
rs4987208
RAD52
4 0.851 0.160 12 913403 stop gained A/C snv 3.5E-02 2.1E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs80357138
rs80357138
BRCA1
9 0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs80357796
rs80357796
BRCA1
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.010 1.000 1 2005 2005
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: 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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2009 2016
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2009 2013
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: 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: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.720 1.000 3 2010 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2010 2010
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011