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
rs1554699216	PTCH1	1.000	0.160	9	95479079	frameshift variant	-/A	delins		1
rs1564063386	PTCH1	1.000	0.160	9	95485861	frameshift variant	-/A	delins		1
rs1554691354	PTCH1	1.000	0.160	9	95458055	frameshift variant	-/A	delins		1
rs1060502294	PTCH1 ; LOC100507346	1.000	0.160	9	95467333	frameshift variant	-/A	delins		1
rs1131690972	PTCH1			9	95459721	frameshift variant	-/AGAT	delins		1
rs1564050405	PTCH1	1.000	0.160	9	95477693	frameshift variant	-/ATAG	delins		1
rs1131690971	PTCH1			9	95481979	frameshift variant	-/C	delins		1
rs1564058147	PTCH1	1.000	0.160	9	95482135	frameshift variant	-/G	delins		1
rs1554698800	PTCH1	1.000	0.160	9	95478094	frameshift variant	-/T	delins		1
rs1554697928	PTCH1	1.000	0.160	9	95476110	frameshift variant	-/T	delins		1
rs1554699837	PTCH1	1.000	0.160	9	95480413	frameshift variant	-/T	delins		1
rs1554698258	PTCH1	1.000	0.160	9	95476777	frameshift variant	-/T	delins		1
rs1554691423	PTCH1	1.000	0.160	9	95458249	frameshift variant	-/TCTAC	ins		1
rs1131690987	PTCH1	1.000	0.160	9	95480449	frameshift variant	A/-	del		2
rs1564058222	PTCH1	1.000	0.160	9	95482161	frameshift variant	A/-	delins		1
rs1564035949	LOC100507346 ; PTCH1	1.000	0.160	9	95469896	frameshift variant	A/-	delins		1
rs1554698531	PTCH1	1.000	0.160	9	95477565	frameshift variant	A/-	delins		1
rs1131690976	PTCH1			9	95449931	frameshift variant	A/-	delins		1
rs1131690991	LOC100507346 ; PTCH1			9	95469818	frameshift variant	A/-	delins		1
rs199476093	PTCH1	1.000	0.120	9	95459764	missense variant	A/C	snv		1
rs1432645175	PTCH1	1.000	0.160	9	95479006	stop gained	A/C;G	snv		1
rs1356231878	PTCH1	1.000	0.160	9	95459685	stop gained	A/C;G	snv	4.0E-06	1
rs786204056	PTCH1	1.000	0.160	9	95458011	splice donor variant	A/G	snv		1
rs878853856	PTCH1	1.000	0.160	9	95453533	missense variant	A/G	snv		1
rs1131690979	PTCH1			9	95480388	splice donor variant	A/G	snv		1