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: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10983614
rs10983614
ASTN2
1 1.000 0.120 9 117306874 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs111033565
rs111033565
PRSS1
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2006 2006
dbSNP: rs1131691021
rs1131691021
TP53
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11571836
rs11571836
BRCA2
6 0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1194611372
rs1194611372
S100A11
9 0.763 0.320 1 152032679 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1209809979
rs1209809979
AKR1A1
3 0.925 0.120 1 45568989 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs121913527
rs121913527
KRAS
9 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1235228469
rs1235228469
PIK3CB
2 0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12620038
rs12620038
EPCAM-DT
1 1.000 0.120 2 47248996 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1322648460
rs1322648460
CD44 ; LOC100507144
9 0.776 0.320 11 35139332 frameshift variant G/- delins 0.010 1.000 1 2011 2011
dbSNP: rs1326889
rs1326889
LOC105373166
1 1.000 0.120 1 230727252 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1336539869
rs1336539869
CDK4
2 0.925 0.120 12 57751681 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1339638227
rs1339638227
CDKN2A
2 0.925 0.120 9 21971119 missense variant T/C snv 4.3E-06 0.010 1.000 1 2007 2007
dbSNP: rs1370041903
rs1370041903
PRKN
3 0.925 0.120 6 161350185 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs141095230
rs141095230
MGMT
2 0.925 0.120 10 129536277 missense variant C/A;T snv 8.0E-06; 5.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1448106115
rs1448106115
PMS2
2 0.925 0.120 7 5989944 missense variant T/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs145574072
rs145574072
OGG1
2 0.925 0.120 3 9754765 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs145733073
rs145733073
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
2 0.925 0.120 2 233682175 missense variant T/C;G snv 4.0E-06; 1.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2010 2010