DisGeNET - a database of gene-disease associations

List of associated variants

Xeroderma pigmentosum, group F, C0268140

Source: ALL

Results per page

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
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs143305574	PGBD3 ; ERCC6	0.925	0.160	10	49517092	missense variant	T/A;C	snv	8.0E-06; 6.8E-05		2
rs1799801	ERCC4	0.807	0.360	16	13948101	synonymous variant	T/C	snv	0.27	0.25	9
rs397509403	ERCC4	0.851	0.200	16	13928149	missense variant	T/C	snv		7.0E-06	4
rs869025184	ERCC4	1.000	0.160	16	13947896	frameshift variant	TCTC/-	delins			1