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: rs34968276
rs34968276
CDKN2A
9 0.776 0.240 9 21971110 stop gained G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913385
rs121913385
CDKN2A
9 0.763 0.240 9 21971112 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs17851045
rs17851045
KRAS
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2007 2007
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs1361241029
rs1361241029
PBK
1 1.000 0.120 8 27828154 start lost T/C snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs876658923
rs876658923
MLH1 ; EPM2AIP1
3 1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs587778883
rs587778883
MLH1
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2011 2011
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
10 0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519910
rs1057519910
MAP2K2
4 0.851 0.160 19 4117551 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121434498
rs121434498
MAP2K2
6 0.807 0.280 19 4117553 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
CTNNB1
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913413
rs121913413
CTNNB1
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2002 2002
dbSNP: rs770380303
rs770380303
MAP3K14
1 1.000 0.120 17 45289251 missense variant C/G snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1435047610
rs1435047610
CDK16
1 1.000 0.120 X 47223642 missense variant G/A snv 9.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs80338963
rs80338963
SMAD4
11 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016