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: 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: 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: 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: 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: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2009 2009
dbSNP: rs17885289
rs17885289
CXCL12
3 0.882 0.080 10 44386212 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2009 2009
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2009 2009
dbSNP: rs266093
rs266093
CXCL12
3 0.882 0.080 10 44370760 3 prime UTR variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2009 2009
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2009 2009
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2010 2010