Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12255372
TCF7L2
0.667 0.480 10 113049143 intron variant G/A;T snv 1
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38 1
rs2234767
FAS ; ACTA2
0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 1
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv 1
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
rs137854575
APC
0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 9
rs137854573
APC
0.807 0.120 5 112828889 stop gained C/T snv 8
rs786201856
APC
0.776 0.200 5 112815507 stop gained C/T snv 8
rs1114167806
MSH2
0.827 0.200 2 47463096 stop gained ATGA/-;ATGAATGA delins 7
rs145945630
APC
0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 7
rs397515734
APC
0.827 0.120 5 112792494 stop gained C/T snv 7
rs587781392
APC
0.827 0.120 5 112780895 stop gained C/G;T snv 7
rs62619935
APC
0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 7
rs63751108
MSH2
0.827 0.240 2 47429881 stop gained C/T snv 7
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 6
rs879255678
FLCN ; MPRIP
0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 6
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 5
rs1554085355
APC
0.851 0.120 5 112839461 stop gained T/A snv 5
rs587780088
MUTYH
0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06 5
rs137854580
APC
0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 4
rs121913327
APC
0.925 0.120 5 112839606 stop gained C/G;T snv 3
rs587782885
MUTYH
0.925 0.120 1 45332440 stop gained G/A;C snv 4.0E-06 3
rs587783057
MUTYH
0.925 0.120 1 45331676 stop gained G/A snv 1.2E-05 3
rs63751310
MLH1
0.851 0.200 3 37048595 stop gained C/T snv 3