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: rs145945630
rs145945630
APC
7 0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 0.700 0
dbSNP: rs587781392
rs587781392
APC
7 0.827 0.120 5 112780895 stop gained C/G;T snv 0.700 0
dbSNP: rs62619935
rs62619935
APC
8 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs397515734
rs397515734
APC
7 0.827 0.120 5 112792494 stop gained C/T snv 0.700 0
dbSNP: rs786201856
rs786201856
APC
10 0.776 0.200 5 112815507 stop gained C/T snv 0.700 0
dbSNP: rs876660765
rs876660765
APC
6 0.851 0.120 5 112815594 splice donor variant G/A snv 0.700 0
dbSNP: rs863225311
rs863225311
APC
7 0.827 0.120 5 112819347 splice region variant A/C;G snv 0.700 0
dbSNP: rs137854573
rs137854573
APC
10 0.807 0.120 5 112828889 stop gained C/T snv 0.700 0
dbSNP: rs137854575
rs137854575
APC
9 0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 0.700 0
dbSNP: rs137854571
rs137854571
APC
2 1.000 0.120 5 112838793 stop gained C/T snv 0.700 0
dbSNP: rs28933379
rs28933379
APC
2 1.000 0.080 5 112838953 missense variant G/A snv 0.700 0
dbSNP: rs1554085355
rs1554085355
APC
5 0.851 0.120 5 112839461 stop gained T/A snv 0.700 0
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1554927408
rs1554927408
FGFR2
12 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
dbSNP: rs121913478
rs121913478
FGFR2
17 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
dbSNP: rs121918491
rs121918491
FGFR2
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs121918487
rs121918487
FGFR2
25 0.716 0.440 10 121517378 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057519044
rs1057519044
FGFR2
11 0.752 0.440 10 121517390 missense variant C/T snv 0.700 0
dbSNP: rs121918505
rs121918505
FGFR2
5 0.851 0.080 10 121520119 missense variant A/G snv 0.700 0
dbSNP: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 0
dbSNP: rs1434545235
rs1434545235
FGFR2
11 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs121912469
rs121912469
IRF1
2 1.000 0.080 5 132489457 missense variant T/A snv 0.700 0
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.020 0.500 2 2019 2020
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0