Source: CLINVAR

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
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3
rs781768965
PTCH1
1.000 9 95508175 stop gained C/A;G snv 4.0E-06 3
rs1131690986
PTCH1
1.000 0.160 9 95485866 stop gained G/A snv 2
rs1060502281
PTCH1
1.000 0.160 9 95481954 stop gained G/T snv 2
rs1064793921
PTCH1
1.000 0.160 9 95476161 splice acceptor variant T/C;G snv 2
rs766313615
LOC100507346 ; PTCH1
1.000 0.160 9 95467368 stop gained G/A;C;T snv 8.0E-06 2
rs878853849
PTCH1
1.000 0.160 9 95506601 splice acceptor variant T/C;G snv 2
rs1060502301
PTCH1
1.000 0.160 9 95458029 stop gained C/T snv 2
rs863225054
PTCH1
1.000 0.160 9 95477548 missense variant T/C snv 2
rs147067171
PTCH1
0.925 0.080 9 95447309 missense variant T/C snv 5.5E-04 5.0E-04 2
rs1060502277
PTCH1
1.000 0.160 9 95476758 splice donor variant C/A;T snv 1
rs1060502271
PTCH1
1.000 0.160 9 95479149 splice acceptor variant T/A snv 1
rs1060502268
PTCH1
1.000 0.160 9 95476835 missense variant C/T snv 1
rs1060502287
PTCH1
1.000 0.160 9 95481987 stop gained C/T snv 1
rs864622293
PTCH1
1.000 0.160 9 95477546 splice donor variant C/G snv 1
rs767273237
PTCH1
1.000 0.160 9 95478080 missense variant C/T snv 2.4E-05 7.0E-06 1
rs1060502274
LOC100507346 ; PTCH1
1.000 0.160 9 95469119 stop gained G/A snv 1
rs1060502278
PTCH1
1.000 0.160 9 95458207 stop gained C/A snv 1
rs1064793922
PTCH1
1.000 0.160 9 95482198 stop gained C/A;T snv 1
rs863224443
PTCH1
1.000 0.160 9 95449942 splice acceptor variant T/C snv 1
rs1057520590
PTCH1
1.000 0.160 9 95482204 splice acceptor variant C/G snv 1
rs1554702186
PTCH1
1.000 0.160 9 95485836 stop gained G/A snv 1
rs1060502285
PTCH1
1.000 0.160 9 95456414 splice acceptor variant C/T snv 1
rs863224444
PTCH1
1.000 0.160 9 95480389 splice donor variant C/T snv 1