Source: BEFREE ×
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: rs1364898025
rs1364898025
ATM
3 0.925 0.080 11 108227656 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs145188037
rs145188037
IGFBP3
3 0.925 0.080 7 45914866 missense variant G/A snv 1.1E-02 9.9E-03 0.010 1.000 1 1998 1998
dbSNP: rs2854746
rs2854746
IGFBP3
13 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 0.010 1.000 1 1998 1998
dbSNP: rs748676559
rs748676559
ACACA
3 0.925 0.080 17 37284932 missense variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 1998 1998
dbSNP: rs886063150
rs886063150
CA2
3 0.925 0.080 8 85477151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs121913314
rs121913314
SRC
3 0.851 0.120 20 37403359 stop gained C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs1017621656
rs1017621656
TGFB1
3 0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs35187787
rs35187787
CDH1
5 0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs459552
rs459552
APC
13 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2001 2001
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 2001 2001
dbSNP: rs1380087059
rs1380087059
APC
3 0.882 0.160 5 112837749 missense variant G/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1418586322
rs1418586322
MLH1
6 0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs587781394
rs587781394
APC
3 0.882 0.160 5 112837812 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs63750875
rs63750875
MSH2
10 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
dbSNP: rs1801155
rs1801155
APC
36 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.800 0.800 10 1997 2004
dbSNP: rs1443465532
rs1443465532
VEGFA
6 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs17879961
rs17879961
CHEK2
45 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.710 1.000 1 2004 2004
dbSNP: rs1801278
rs1801278
IRS1
36 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.010 1.000 1 2004 2004
dbSNP: rs760891242
rs760891242
XPC
3 0.925 0.080 3 14168309 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2005 2005
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006