Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 2
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10 1
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs35628
ABCC1
1.000 0.080 16 16077249 intron variant A/G snv 0.13 1
rs4402960
IGF2BP2
0.724 0.400 3 185793899 intron variant G/T snv 0.38 1
rs4939827
SMAD7
0.708 0.160 18 48927093 intron variant T/A;C snv 1
rs2046210 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 2
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs62625307
BRCA1
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06 6
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05 6
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 5
rs17215500
KCNQ1
0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04 5
rs1057519838
PIK3R1
0.882 0.160 5 68293790 stop gained C/T snv 4
rs121913304
RB1 ; LOC112268118
0.925 0.080 13 48381414 stop gained C/T snv 4
rs121913332
APC
0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 4
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv 4
rs587780062
PMS2
0.827 0.240 7 5995614 stop gained G/A;C snv 8.0E-06; 8.0E-05 4
rs764575966
SDHC
0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 4
rs80357468
BRCA1
0.882 0.200 17 43094415 stop gained C/T snv 4
rs121908390
CYLD ; LOC105371251
0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 3
rs121913324
STK11
1.000 0.160 19 1207022 stop gained C/T snv 3
rs180177111
PALB2
0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06 3
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 3