DisGeNET - a database of gene-disease associations

List of shared variants

Neoplastic Syndromes, Hereditary, C0027672

Disease: Basal Cell Nevus Syndrome

Source: CLINVAR ×

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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
rs1060502273	PTCH1	1.000	0.160	9	95453562	frameshift variant	AT/-	del			2
rs1060502281	PTCH1	1.000	0.160	9	95481954	stop gained	G/T	snv			2
rs1060502292	LOC100507346 ; PTCH1	1.000	0.160	9	95468803	frameshift variant	AG/-	delins			2
rs1060502301	PTCH1	1.000	0.160	9	95458029	stop gained	C/T	snv			2
rs1064793921	PTCH1	1.000	0.160	9	95476161	splice acceptor variant	T/C;G	snv			2
rs1131690969	PTCH1	1.000	0.160	9	95480525	frameshift variant	CTTT/-	delins			2
rs1131690986	PTCH1	1.000	0.160	9	95485866	stop gained	G/A	snv			2
rs1131690987	PTCH1	1.000	0.160	9	95480449	frameshift variant	A/-	del			2
rs766313615	LOC100507346 ; PTCH1	1.000	0.160	9	95467368	stop gained	G/A;C;T	snv	8.0E-06		2
rs863225467	PTCH1 ; LOC100507346	1.000	0.160	9	95467134	frameshift variant	AGTA/CT	delins			2
rs878853849	PTCH1	1.000	0.160	9	95506601	splice acceptor variant	T/C;G	snv			2