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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2005 2020
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.050 1.000 5 2003 2019
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 5 2010 2015
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 1.000 4 2006 2016
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.040 1.000 4 2015 2019
dbSNP: rs3790844
rs3790844
NR5A2
4 0.882 0.200 1 200038304 intron variant A/C;G snv 0.730 1.000 4 2010 2018
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.740 1.000 4 2009 2015
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.040 1.000 4 2004 2019
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.030 1.000 3 2014 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2014 2015
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2016 2019
dbSNP: rs1037189404
rs1037189404
MUC1
8 0.776 0.280 1 155187519 missense variant C/T snv 0.020 1.000 2 2012 2015
dbSNP: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.020 1.000 2 2011 2018
dbSNP: rs111966833
rs111966833
SPINK1
8 0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03 0.020 1.000 2 2005 2006
dbSNP: rs11655237
rs11655237
LINC00511 ; LINC00673
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.020 1.000 2 2019 2019
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: rs1223231582
rs1223231582
PRSS1
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.020 1.000 2 2003 2004
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
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: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2009 2014
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs2308321
rs2308321
MGMT
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.020 1.000 2 2006 2012
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2012 2018
dbSNP: rs35385902
rs35385902
ADH1B ; ADH1C
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.020 1.000 2 2009 2010
dbSNP: rs3790843
rs3790843
NR5A2
7 0.827 0.160 1 200041696 intron variant C/T snv 0.29 0.020 1.000 2 2015 2018