DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: PTCH1 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	Num. diseases
rs878853856	PTCH1	1.000	0.160	9	95453533	missense variant	A/G	snv		1
rs878853852	PTCH1 ; LOC100507346	1.000	0.160	9	95462000	splice acceptor variant	T/A;C	snv		1
rs878853849	PTCH1	1.000	0.160	9	95506601	splice acceptor variant	T/C;G	snv		2
rs878853847	PTCH1	1.000	0.160	9	95476147	frameshift variant	C/-;CC	delins		1
rs864622583	PTCH1	1.000	0.160	9	95506497	frameshift variant	AACTTGCCGCAGTTTTTTTGAATGTAACAACCCAG/-	delins		1
rs864622374	PTCH1	1.000	0.160	9	95478073	frameshift variant	G/-	delins		1
rs864622293	PTCH1	1.000	0.160	9	95477546	splice donor variant	C/G	snv		1
rs864622212	PTCH1	1.000	0.160	9	95506542	frameshift variant	AG/-	delins		1
rs863225467	PTCH1 ; LOC100507346	1.000	0.160	9	95467134	frameshift variant	AGTA/CT	delins		2
rs863225055	PTCH1	0.925	0.160	9	95476760	frameshift variant	AAAAGGGATTC/-	delins		3
rs863225054	PTCH1	1.000	0.160	9	95477548	missense variant	T/C	snv		2
rs863224650	PTCH1 ; LOC100507346			9	95469856	stop gained	G/A;T	snv		1
rs863224487	PTCH1	1.000	0.160	9	95482029	stop gained	A/T	snv		1
rs863224486	PTCH1	1.000	0.160	9	95482176	stop gained	G/C	snv		1
rs863224485	PTCH1	1.000	0.160	9	95459638	frameshift variant	GGACCCAT/-	delins		1
rs863224484	PTCH1	1.000	0.160	9	95459688	frameshift variant	C/-	del		1
rs863224444	PTCH1	1.000	0.160	9	95480389	splice donor variant	C/T	snv		1
rs863224443	PTCH1	1.000	0.160	9	95449942	splice acceptor variant	T/C	snv		1
rs863224442	PTCH1	1.000	0.160	9	95453477	splice donor variant	C/T	snv		1
rs786204167	LOC100507346 ; PTCH1	1.000	0.160	9	95467181	missense variant	A/T	snv		1
rs786204056	PTCH1	1.000	0.160	9	95458011	splice donor variant	A/G	snv		1
rs781768965	PTCH1	1.000		9	95508175	stop gained	C/A;G	snv	4.0E-06	3
rs778260156	PTCH1 ; LOC100507346	1.000	0.160	9	95467285	stop gained	G/A;T	snv	1.2E-05	1
rs776154605	PTCH1	1.000	0.160	9	95476058	frameshift variant	G/-	delins		1
rs772407797	PTCH1			9	95506504	synonymous variant	G/A;C	snv	4.0E-06	1