Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs755103500
PTCH1
0.851 0.160 9 95516820 start lost T/C;G snv 8.4E-06; 4.2E-06 4
rs766905791
PTCH1
0.851 0.160 9 95485815 start lost T/C snv 1.2E-05 4
rs587776578
SUFU
0.882 0.160 10 102599545 splice donor variant G/A;C snv 3
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv 3
rs1356844630
GLI1
0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 5
rs1131690985
PTCH1
0.925 0.200 9 95449891 missense variant C/T snv 3
rs863225055
PTCH1
0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins 3
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
rs1249050389
PTCH1
0.925 0.240 9 95485696 stop gained G/C snv 2
rs1477199832
SUFU
0.925 0.160 10 102597223 frameshift variant -/C delins 2
rs1554840869
ACTR1A ; SUFU
0.925 0.160 10 102504322 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
rs1564032829
LOC100507346 ; PTCH1
0.925 0.160 9 95468757 frameshift variant T/- delins 2
rs1564654588
SUFU ; ACTR1A
0.925 0.160 10 102504327 stop gained A/T snv 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
rs56126236
PTCH2
0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 2
rs1060502273
PTCH1
1.000 0.160 9 95453562 frameshift variant AT/- del 2
rs1060502281
PTCH1
1.000 0.160 9 95481954 stop gained G/T snv 2
rs1060502292
LOC100507346 ; PTCH1
1.000 0.160 9 95468803 frameshift variant AG/- delins 2