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
rs1131690985
PTCH1
0.925 0.200 9 95449891 missense variant C/T snv 3
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv 3
rs863225055
PTCH1
0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins 3
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
rs1060502301
PTCH1
1.000 0.160 9 95458029 stop gained C/T snv 2
rs1064793921
PTCH1
1.000 0.160 9 95476161 splice acceptor variant T/C;G snv 2
rs1131690969
PTCH1
1.000 0.160 9 95480525 frameshift variant CTTT/- delins 2
rs1131690986
PTCH1
1.000 0.160 9 95485866 stop gained G/A snv 2
rs1131690987
PTCH1
1.000 0.160 9 95480449 frameshift variant A/- del 2
rs1249050389
PTCH1
0.925 0.240 9 95485696 stop gained G/C snv 2
rs863225054
PTCH1
1.000 0.160 9 95477548 missense variant T/C snv 2
rs863225467
PTCH1 ; LOC100507346
1.000 0.160 9 95467134 frameshift variant AGTA/CT delins 2
rs878853849
PTCH1
1.000 0.160 9 95506601 splice acceptor variant T/C;G snv 2
rs1057520590
PTCH1
1.000 0.160 9 95482204 splice acceptor variant C/G snv 1
rs1060502264
PTCH1
1.000 0.160 9 95449930 frameshift variant C/- del 1
rs1060502268
PTCH1
1.000 0.160 9 95476835 missense variant C/T snv 1
rs1060502271
PTCH1
1.000 0.160 9 95479149 splice acceptor variant T/A snv 1
rs1060502277
PTCH1
1.000 0.160 9 95476758 splice donor variant C/A;T snv 1
rs1060502278
PTCH1
1.000 0.160 9 95458207 stop gained C/A snv 1
rs1060502280
PTCH1
1.000 0.160 9 95485814 frameshift variant TA/- delins 1
rs1060502285
PTCH1
1.000 0.160 9 95456414 splice acceptor variant C/T snv 1