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: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2004 2008
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: 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: rs1555525012
rs1555525012
TP53
3 0.882 0.200 17 7673603 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2008 2008
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 2008 2008
dbSNP: rs267606982
rs267606982
PRSS1
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.010 1.000 1 2008 2008
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs786204195
rs786204195
CDKN2A
4 0.851 0.200 9 21974686 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 1.000 2 2005 2009
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2009 2009
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: rs150495372
rs150495372
ADH1B
3 0.925 0.120 4 99313834 missense variant C/T snv 3.7E-04 0.010 1.000 1 2009 2009
dbSNP: rs1693482
rs1693482
ADH1B ; ADH1C
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 1.000 1 2009 2009
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.010 1.000 1 2009 2009
dbSNP: rs587778992
rs587778992
MLH1
4 0.882 0.200 3 37050606 stop gained C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs63751412
rs63751412
MSH2
4 0.882 0.200 2 47429869 stop gained C/A;G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2009 2009
dbSNP: rs786203926
rs786203926
ATM
4 0.882 0.120 11 108227678 synonymous variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs876659900
rs876659900
PMS2
3 0.925 0.120 7 5982861 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs889312
rs889312 		14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs940553638
rs940553638
ALDH2
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 1.000 2 2009 2010