DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Basal Cell Nevus Syndrome ×

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
rs1554698582	PTCH1	1.000	0.160	9	95477618	inframe deletion	ACCAGCAGGACGCCA/-	delins			1
rs755103500	PTCH1	0.851	0.160	9	95516820	start lost	T/C;G	snv	8.4E-06; 4.2E-06		4
rs766905791	PTCH1	0.851	0.160	9	95485815	start lost	T/C	snv	1.2E-05		4
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs1064793921	PTCH1	1.000	0.160	9	95476161	splice acceptor variant	T/C;G	snv			2
rs878853849	PTCH1	1.000	0.160	9	95506601	splice acceptor variant	T/C;G	snv			2
rs1057520590	PTCH1	1.000	0.160	9	95482204	splice acceptor variant	C/G	snv			1
rs1060502271	PTCH1	1.000	0.160	9	95479149	splice acceptor variant	T/A	snv			1
rs1060502285	PTCH1	1.000	0.160	9	95456414	splice acceptor variant	C/T	snv			1
rs1554698613	PTCH1	1.000	0.160	9	95477680	splice acceptor variant	TTAGACAGGCATAGGCGAGCTGCAAGCAGAACAATGG/-	delins			1
rs1554708795	PTCH1	1.000	0.160	9	95506574	splice acceptor variant	GGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGA/-	del			1
rs1564031259	LOC100507346 ; PTCH1	1.000	0.160	9	95467400	splice acceptor variant	AAAAAGGAAGATCACCACTACCTGGAACAGAAGAGGCACAAGGTCAGACCCCAG/-	delins			1
rs1564051834	PTCH1	1.000	0.160	9	95478187	splice acceptor variant	C/T	snv			1
rs863224443	PTCH1	1.000	0.160	9	95449942	splice acceptor variant	T/C	snv			1
rs878853852	PTCH1 ; LOC100507346	1.000	0.160	9	95462000	splice acceptor variant	T/A;C	snv			1
rs863225055	PTCH1	0.925	0.160	9	95476760	frameshift variant	AAAAGGGATTC/-	delins			3
rs1060502273	PTCH1	1.000	0.160	9	95453562	frameshift variant	AT/-	del			2
rs1060502292	LOC100507346 ; PTCH1	1.000	0.160	9	95468803	frameshift variant	AG/-	delins			2
rs1131690969	PTCH1	1.000	0.160	9	95480525	frameshift variant	CTTT/-	delins			2
rs1131690987	PTCH1	1.000	0.160	9	95480449	frameshift variant	A/-	del			2
rs1564032829	LOC100507346 ; PTCH1	0.925	0.160	9	95468757	frameshift variant	T/-	delins			2
rs863225467	PTCH1 ; LOC100507346	1.000	0.160	9	95467134	frameshift variant	AGTA/CT	delins			2
rs1060502264	PTCH1	1.000	0.160	9	95449930	frameshift variant	C/-	del			1
rs1060502280	PTCH1	1.000	0.160	9	95485814	frameshift variant	TA/-	delins			1
rs1060502286	PTCH1	1.000	0.160	9	95479006	frameshift variant	AT/-	delins			1