Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs863224925
ACTR1A ; SUFU
1.000 0.040 10 102504263 frameshift variant C/- del 1
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 1
rs387906238
APC
0.925 0.120 5 112819224 frameshift variant AA/- del 1
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 1
rs28942088
SUFU ; ACTR1A
1.000 0.040 10 102504196 missense variant C/T snv 1
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs1554840869
ACTR1A ; SUFU
0.925 0.160 10 102504322 frameshift variant -/C delins 2
rs1057517558
APC
0.882 0.120 5 112839549 frameshift variant C/- delins 2
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs1564032829
LOC100507346 ; PTCH1
0.925 0.160 9 95468757 frameshift variant T/- delins 2
rs56126236
PTCH2
0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 2
rs17710891
SMO
0.925 0.040 7 129209348 missense variant G/A;C snv 2.4E-05 2
rs1060501105
SUFU
0.925 0.160 10 102615266 splice acceptor variant A/T snv 2
rs1060501108
SUFU
0.925 0.160 10 102549993 frameshift variant G/- del 2
rs1060501109
SUFU
0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05 2
rs1477199832
SUFU
0.925 0.160 10 102597223 frameshift variant -/C delins 2
rs1554841447
SUFU
0.925 0.160 10 102509168 splice acceptor variant G/A snv 2
rs1554852279
SUFU
0.925 0.160 10 102592711 frameshift variant -/TA delins 2
rs1564676479
SUFU
0.925 0.160 10 102550107 splice donor variant G/A snv 2
rs1564698683
SUFU
0.925 0.160 10 102597207 stop gained G/A snv 2
rs1564698850
SUFU
0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 2
rs1564654588
SUFU ; ACTR1A
0.925 0.160 10 102504327 stop gained A/T snv 2
rs17847577
WRN
0.925 0.120 8 31081132 stop gained C/T snv 1.7E-04 3.2E-04 2
rs143277125
PMS2
0.851 0.160 7 5992012 stop gained G/A;T snv 4.0E-06 3
rs587776578
SUFU
0.882 0.160 10 102599545 splice donor variant G/A;C snv 3