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	AF GENOME	Num. diseases
rs863224485	PTCH1	1.000	0.160	9	95459638	frameshift variant	GGACCCAT/-	delins			1
rs1554691658	PTCH1	0.807	0.240	9	95459653	frameshift variant	C/GGGTCCACAACATCT	delins			11
rs1064794260	PTCH1			9	95459654	stop gained	G/A;C;T	snv	4.0E-06; 4.0E-06		1
rs1356231878	PTCH1	1.000	0.160	9	95459685	stop gained	A/C;G	snv	4.0E-06		1
rs863224484	PTCH1	1.000	0.160	9	95459688	frameshift variant	C/-	del			1
rs1131690997	PTCH1			9	95459693	frameshift variant	C/-	del			1
rs1131690972	PTCH1			9	95459721	frameshift variant	-/AGAT	delins			1
rs199476093	PTCH1	1.000	0.120	9	95459764	missense variant	A/C	snv			1
rs765371196	PTCH1 ; LOC100507346	1.000		9	95461864	missense variant	T/C	snv	1.6E-05	1.4E-05	1
rs1554692266	PTCH1 ; LOC100507346	1.000	0.160	9	95461920	frameshift variant	C/-	delins			1
rs1554692291	LOC100507346 ; PTCH1	1.000	0.160	9	95461940	stop gained	G/C	snv			1
rs1131690975	PTCH1 ; LOC100507346			9	95461961	frameshift variant	C/-	delins			1
rs878853852	PTCH1 ; LOC100507346	1.000	0.160	9	95462000	splice acceptor variant	T/A;C	snv			1
rs863225467	PTCH1 ; LOC100507346	1.000	0.160	9	95467134	frameshift variant	AGTA/CT	delins			2
rs1564030530	PTCH1 ; LOC100507346	1.000	0.160	9	95467161	stop gained	G/A	snv			1
rs786204167	LOC100507346 ; PTCH1	1.000	0.160	9	95467181	missense variant	A/T	snv			1
rs778260156	PTCH1 ; LOC100507346	1.000	0.160	9	95467285	stop gained	G/A;T	snv	1.2E-05		1
rs1060502294	PTCH1 ; LOC100507346	1.000	0.160	9	95467333	frameshift variant	-/A	delins			1
rs766313615	LOC100507346 ; PTCH1	1.000	0.160	9	95467368	stop gained	G/A;C;T	snv	8.0E-06		2
rs1564031259	LOC100507346 ; PTCH1	1.000	0.160	9	95467400	splice acceptor variant	AAAAAGGAAGATCACCACTACCTGGAACAGAAGAGGCACAAGGTCAGACCCCAG/-	delins			1
rs1564032829	LOC100507346 ; PTCH1	0.925	0.160	9	95468757	frameshift variant	T/-	delins			2
rs1060502292	LOC100507346 ; PTCH1	1.000	0.160	9	95468803	frameshift variant	AG/-	delins			2
rs1131690992	PTCH1 ; LOC100507346			9	95468811	stop gained	C/T	snv			1
rs1554695039	LOC100507346 ; PTCH1	1.000	0.160	9	95468939	stop gained	G/A	snv			1
rs1554695251	PTCH1 ; LOC100507346	1.000	0.160	9	95469116	frameshift variant	C/-	delins			1