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: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs929783669
rs929783669
STK11
1 1.000 0.080 19 1220674 missense variant T/C snv 0.700 0
dbSNP: rs587782329
rs587782329
TP53
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.020 1.000 2 2000 2004
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.923 13 2002 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.900 10 2002 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.900 10 2002 2016
dbSNP: rs1003897973
rs1003897973
TRIP10 ; LOC107985302
3 0.882 0.080 19 6746039 missense variant C/G snv 0.010 < 0.001 1 2002 2002
dbSNP: rs281860374
rs281860374
HLA-B ; HLA-C
3 0.882 0.080 6 31271730 missense variant G/C snv 0.010 < 0.001 1 2002 2002
dbSNP: rs9298814
rs9298814
IFNA17
7 0.790 0.160 9 21227623 missense variant A/C;G snv 0.12; 8.8E-06 0.010 1.000 1 2003 2003
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.786 14 2004 2019
dbSNP: rs786202962
rs786202962
TP53
21 0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.090 0.778 9 2005 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2005 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 0.500 2 2005 2013
dbSNP: rs1208415127
rs1208415127
RASSF1
6 0.827 0.160 3 50331654 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs56250509
rs56250509
MLH1
10 0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs745950347
rs745950347
DAPK1
3 0.882 0.120 9 87640345 missense variant T/C snv 8.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs773919809
rs773919809
MGMT
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs864622584
rs864622584
APC
1 1.000 0.080 5 112838623 missense variant G/A snv 0.010 < 0.001 1 2005 2005
dbSNP: rs997271472
rs997271472
APC
1 1.000 0.080 5 112838434 missense variant G/A;T snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs768873896
rs768873896
MTHFR
7 0.790 0.160 1 11794822 missense variant C/G;T snv 8.0E-06; 2.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs373129709
rs373129709
EGFR ; LOC105375284
7 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 0.010 1.000 1 2007 2007
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.050 0.600 5 2008 2017
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.040 1.000 4 2009 2018