DisGeNET - a database of gene-disease associations

List of associated variants

Basal Cell Nevus Syndrome, C0004779

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs863225055	PTCH1	0.925	0.160	9	95476760	frameshift variant	AAAAGGGATTC/-	delins			3
rs587776578	SUFU	0.882	0.160	10	102599545	splice donor variant	G/A;C	snv			3
rs1554840869	ACTR1A ; SUFU	0.925	0.160	10	102504322	frameshift variant	-/C	delins			2
rs1060502292	LOC100507346 ; PTCH1	1.000	0.160	9	95468803	frameshift variant	AG/-	delins			2
rs1564032829	LOC100507346 ; PTCH1	0.925	0.160	9	95468757	frameshift variant	T/-	delins			2
rs766313615	LOC100507346 ; PTCH1	1.000	0.160	9	95467368	stop gained	G/A;C;T	snv	8.0E-06		2
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
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
rs863225054	PTCH1	1.000	0.160	9	95477548	missense variant	T/C	snv			2
rs878853849	PTCH1	1.000	0.160	9	95506601	splice acceptor variant	T/C;G	snv			2
rs863225467	PTCH1 ; LOC100507346	1.000	0.160	9	95467134	frameshift variant	AGTA/CT	delins			2
rs56126236	PTCH2	0.925	0.160	1	44829444	frameshift variant	GA/-	delins		6.3E-05	2
rs1060501105	SUFU	0.925	0.160	10	102615266	splice acceptor variant	A/T	snv			2
rs1060501108	SUFU	0.925	0.160	10	102549993	frameshift variant	G/-	del			2
rs1060501109	SUFU	0.925	0.160	10	102550088	stop gained	C/T	snv		1.4E-05	2
rs1477199832	SUFU	0.925	0.160	10	102597223	frameshift variant	-/C	delins			2
rs1554841447	SUFU	0.925	0.160	10	102509168	splice acceptor variant	G/A	snv			2
rs1554852279	SUFU	0.925	0.160	10	102592711	frameshift variant	-/TA	delins			2
rs1564676479	SUFU	0.925	0.160	10	102550107	splice donor variant	G/A	snv			2