Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs751977093
PTCH1
1.000 0.160 9 95508248 frameshift variant CCC/-;CC;CCCC delins 1
rs781768965
PTCH1
1.000 9 95508175 stop gained C/A;G snv 4.0E-06 3
rs1131690967
PTCH1
9 95508160 splice donor variant C/T snv 1
rs878853849
PTCH1
1.000 0.160 9 95506601 splice acceptor variant T/C;G snv 2
rs1554708795
PTCH1
1.000 0.160 9 95506574 splice acceptor variant GGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGA/- del 1
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3
rs1554708771
PTCH1
1.000 0.160 9 95506546 frameshift variant CT/- delins 1
rs864622212
PTCH1
1.000 0.160 9 95506542 frameshift variant AG/- delins 1
rs1554708760
PTCH1
1.000 0.160 9 95506541 frameshift variant AA/- del 1
rs1554708753
PTCH1
1.000 0.160 9 95506522 frameshift variant G/- del 1
rs1554708751
PTCH1
1.000 0.160 9 95506511 frameshift variant T/- delins 1
rs1131690968
PTCH1
9 95506507 stop gained G/T snv 1
rs1564088181
PTCH1
1.000 0.160 9 95506505 frameshift variant C/- delins 1
rs772407797
PTCH1
9 95506504 synonymous variant G/A;C snv 4.0E-06 1
rs864622583
PTCH1
1.000 0.160 9 95506497 frameshift variant AACTTGCCGCAGTTTTTTTGAATGTAACAACCCAG/- delins 1
rs1554708626
PTCH1
9 95506414 frameshift variant CCACAGCTCCTCCACGT/- del 1
rs1131690995
PTCH1
9 95506406 splice donor variant C/T snv 1
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1131690986
PTCH1
1.000 0.160 9 95485866 stop gained G/A snv 2
rs1564063386
PTCH1
1.000 0.160 9 95485861 frameshift variant -/A delins 1
rs1554702186
PTCH1
1.000 0.160 9 95485836 stop gained G/A snv 1
rs1344258746
PTCH1
1.000 0.160 9 95485821 stop gained C/A;T snv 1
rs1060502280
PTCH1
1.000 0.160 9 95485814 frameshift variant TA/- delins 1
rs1131690981
PTCH1
9 95485778 frameshift variant TTAGGGGTCT/- delins 1
rs1333346461
PTCH1
1.000 0.160 9 95485690 stop gained G/A;T snv 7.0E-06 1