DisGeNET - a database of gene-disease associations

List of associated variants

Xeroderma Pigmentosum, C0043346

Source: ALL

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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
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs41556519	ERCC2	0.807	0.400	19	45352352	missense variant	G/A	snv	6.0E-05	2.8E-05	6
rs121913023	ERCC2	0.851	0.400	19	45352511	missense variant	C/T	snv	2.0E-05	1.4E-05	4
rs121913024	ERCC2	0.851	0.400	19	45352802	missense variant	G/A	snv	5.6E-05	3.5E-05	4
rs776705174	ERCC2	1.000	0.160	19	45357267	splice donor variant	-/A	delins	4.0E-06; 1.6E-05	2.1E-05	1
rs1554788393	ERCC6	0.882	0.240	10	49482818	missense variant	T/C	snv			3
rs104894132	XPA	0.925	0.160	9	97675579	stop gained	G/A	snv	3.0E-04	3.2E-04	2
rs1554701103	XPA	0.925	0.160	9	97684929	frameshift variant	-/T	delins			2
rs149226993	XPA	0.925	0.160	9	97684965	stop gained	G/A	snv	4.0E-06		2
rs1200172747	XPA	0.925	0.160	9	97689570	frameshift variant	TAAGA/-	delins	4.0E-06	2.1E-05	2