Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1060502273
PTCH1
1.000 0.160 9 95453562 frameshift variant AT/- del 2
rs1060502274
LOC100507346 ; PTCH1
1.000 0.160 9 95469119 stop gained G/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
rs1060502281
PTCH1
1.000 0.160 9 95481954 stop gained G/T snv 2
rs1060502285
PTCH1
1.000 0.160 9 95456414 splice acceptor variant C/T snv 1
rs1060502286
PTCH1
1.000 0.160 9 95479006 frameshift variant AT/- delins 1
rs1060502287
PTCH1
1.000 0.160 9 95481987 stop gained C/T snv 1
rs1060502292
LOC100507346 ; PTCH1
1.000 0.160 9 95468803 frameshift variant AG/- delins 2
rs1060502294
PTCH1 ; LOC100507346
1.000 0.160 9 95467333 frameshift variant -/A delins 1
rs1060502295
PTCH1
1.000 0.160 9 95478094 frameshift variant G/- del 1
rs1060502297
PTCH1
1.000 0.160 9 95479060 frameshift variant G/- del 1
rs1060502298
PTCH1
1.000 0.160 9 95458178 stop gained A/T snv 1
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
rs1064793922
PTCH1
1.000 0.160 9 95482198 stop gained C/A;T snv 1
rs1064794260
PTCH1
9 95459654 stop gained G/A;C;T snv 4.0E-06; 4.0E-06 1
rs1085307752
PTCH1
9 95479148 splice acceptor variant C/A;T snv 1
rs1131690967
PTCH1
9 95508160 splice donor variant C/T snv 1
rs1131690968
PTCH1
9 95506507 stop gained G/T snv 1