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: rs864622149
rs864622149
CHEK2
5 0.851 0.160 22 28710005 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs876658932
rs876658932
CDH1
7 0.807 0.400 16 68801726 stop gained C/G;T snv 0.700 0
dbSNP: rs876660943
rs876660943
MSH6 ; FBXO11
5 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0
dbSNP: rs121913314
rs121913314
SRC
5 0.851 0.120 20 37403359 stop gained C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs3768235
rs3768235
BCL10
2 0.925 0.080 1 85267691 missense variant C/T snv 8.0E-06; 6.5E-02 4.5E-02 0.010 1.000 1 2001 2001
dbSNP: rs549467183
rs549467183
MSH2
2 0.925 0.080 2 47475228 missense variant G/A snv 1.3E-04 3.5E-05 0.010 1.000 1 2002 2002
dbSNP: rs55907433
rs55907433
MLH1
2 0.925 0.120 3 37048583 missense variant A/G;T snv 1.1E-03; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs864622121
rs864622121
MSH2
2 1.000 0.080 2 47475228 frameshift variant GT/- del 0.010 1.000 1 2002 2002
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
7 0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03 0.700 1.000 2 2000 2004
dbSNP: rs63750664
rs63750664
MSH6
3 0.882 0.200 2 47783292 missense variant C/A;T snv 4.1E-06; 9.4E-05 0.700 1.000 2 2000 2004
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
8 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 2 2000 2004
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs1271572
rs1271572
ESR2
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.010 < 0.001 1 2004 2004
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2004 2004
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs4994
rs4994
ADRB3
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2004 2004
dbSNP: rs886039484
rs886039484
TP53
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs28930073
rs28930073
MLH1
5 0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs759843019
rs759843019
ERCC4
6 0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs997050266
rs997050266
ERCC1
4 0.851 0.120 19 45423352 missense variant T/A;C snv 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2006 2006
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 < 0.001 1 2006 2006