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: rs104893819
rs104893819
TGFBR2
5 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 0
dbSNP: rs2231917
rs2231917
FBXO4
1 1.000 0.080 5 41925333 missense variant C/G snv 2.0E-02 1.1E-02 0.700 0
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs756762196
rs756762196
WWOX
4 0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05 0.700 0
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
4 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
14 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: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 1999 1999
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.010 1.000 1 1999 1999
dbSNP: rs121912657
rs121912657
TP53
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs917870680
rs917870680
MDM2
3 0.925 0.080 12 68839304 missense variant A/G snv 0.010 1.000 1 2002 2002
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: rs750408412
rs750408412
CYP2E1
3 0.925 0.080 10 133538938 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs370426812
rs370426812
FAS
4 0.882 0.200 10 89014312 synonymous variant G/A snv 4.0E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1805329
rs1805329
RAD23B
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2009 2009
dbSNP: rs756826500
rs756826500
ERCC1
5 0.925 0.080 19 45413705 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs767551092
rs767551092
XPC
10 0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1138272
rs1138272
GSTP1
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2010 2010