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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs147105770	ERCC4	0.776	0.280	16	13935697	missense variant	C/G;T	snv	1.2E-05; 6.4E-05		8
rs41556519	ERCC2	0.807	0.400	19	45352352	missense variant	G/A	snv	6.0E-05	2.8E-05	6
rs770998368	ERCC5 ; BIVM-ERCC5	0.827	0.240	13	102861511	missense variant	C/G;T	snv	4.0E-06		5
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
rs121913049	ERCC4	0.851	0.240	16	13947991	missense variant	C/G;T	snv	4.8E-04		4
rs121913050	ERCC4	0.882	0.240	16	13926630	missense variant	G/A;C;T	snv	2.4E-05; 4.0E-06; 4.0E-06		3
rs1554788393	ERCC6	0.882	0.240	10	49482818	missense variant	T/C	snv			3
rs77907221	XPC	0.882	0.160	3	14154795	intron variant	AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/-	delins			3
rs121434570	BIVM-ERCC5 ; ERCC5	0.925	0.160	13	102872397	stop gained	G/A;T	snv	8.0E-06; 8.0E-06		2
rs1232856265	ERCC3	0.925	0.240	2	127261248	missense variant	C/G;T	snv	1.2E-05		2
rs929424117	ERCC5 ; BIVM-ERCC5	0.925	0.160	13	102866645	missense variant	T/C	snv	4.0E-06		2
rs754673606	LOC107986063 ; XPC	0.925	0.160	3	14148732	splice acceptor variant	C/G;T	snv	2.4E-05		2
rs104894132	XPA	0.925	0.160	9	97675579	stop gained	G/A	snv	3.0E-04	3.2E-04	2
rs1200172747	XPA	0.925	0.160	9	97689570	frameshift variant	TAAGA/-	delins	4.0E-06	2.1E-05	2
rs149226993	XPA	0.925	0.160	9	97684965	stop gained	G/A	snv	4.0E-06		2
rs1554701103	XPA	0.925	0.160	9	97684929	frameshift variant	-/T	delins			2