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: rs1321845532
rs1321845532
TP53
4 0.851 0.160 17 7670685 frameshift variant GG/A;G delins 0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.020 1.000 2 2012 2012
dbSNP: rs56307747
rs56307747
ELN ; ELN-AS1
8 0.776 0.160 7 74059952 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2012 2012
dbSNP: rs2227564
rs2227564
PLAU ; C10orf55
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 1997 1997
dbSNP: rs764918809
rs764918809
MDM2
6 0.827 0.160 12 68839337 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121964872
rs121964872
CDH1
3 0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04 0.700 0
dbSNP: rs61755649
rs61755649
RAD51B
3 0.882 0.160 14 67885891 missense variant C/T snv 6.8E-05 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs495139
rs495139
ENOSF1
4 0.882 0.120 18 676008 intron variant G/C snv 0.63 0.020 1.000 2 2010 2018
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 2010 2018
dbSNP: rs755378873
rs755378873
SLC13A5
5 0.851 0.120 17 6694197 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2240308
rs2240308
AXIN2
18 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 0.010 1.000 1 2014 2014
dbSNP: rs3923087
rs3923087
AXIN2
5 0.827 0.160 17 65553143 intron variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs1950902
rs1950902
MTHFD1
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 1.000 1 2014 2014
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.020 1.000 2 2018 2019
dbSNP: rs1271572
rs1271572
ESR2
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.030 1.000 3 2009 2018
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: rs7937840
rs7937840
INCENP
7 0.807 0.200 11 62126500 intron variant C/T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs12451939
rs12451939
MED13
1 1.000 0.120 17 61970281 intron variant A/G snv 2.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs12938171
rs12938171
INTS2
1 1.000 0.120 17 61902994 intron variant G/A snv 9.0E-03 0.700 1.000 1 2011 2011
dbSNP: rs12937080
rs12937080
BRIP1
1 1.000 0.120 17 61852376 intron variant A/G;T snv 0.700 1.000 1 2011 2011
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: rs34289250
rs34289250
BRIP1
2 0.925 0.120 17 61803285 intron variant T/C snv 7.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs1064795649
rs1064795649
BRIP1
2 1.000 0.120 17 61799205 frameshift variant CT/- delins 0.700 0
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