DisGeNET - a database of gene-disease associations

List of associated variants

Xeroderma Pigmentosum, Complementation Group D, C0268138

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
rs753641926	ERCC2	1.000	0.160	19	45353113	missense variant	G/A;T	snv	4.4E-05; 4.0E-06		1
rs758439420	ERCC2	1.000	0.160	19	45352351	missense variant	C/A;T	snv	8.0E-06; 1.6E-05		1
rs758748662	EGFR	1.000	0.160	7	55155911	missense variant	G/A	snv	4.0E-06	1.4E-05	1
rs767747355	ERCC2	1.000	0.160	19	45364838	frameshift variant	GAGT/-	delins	1.2E-05		1
rs770085172	AGT	1.000	0.160	1	230710315	missense variant	T/C	snv		7.0E-06	1
rs771366736	EGFR	1.000	0.160	7	55143380	missense variant	A/G	snv	8.0E-06	1.4E-05	1
rs771824813	ERCC2	1.000	0.160	19	45353109	missense variant	C/T	snv	4.0E-06		1
rs771929085	EGFR	1.000	0.160	7	55155941	missense variant	G/A	snv	1.2E-05		1
rs772572683	ERCC2	1.000	0.160	19	45355676	missense variant	C/T	snv	4.0E-06		1
rs767551092	XPC	0.790	0.200	3	14164838	missense variant	G/A	snv	4.0E-06		10
rs2227928	ATR	0.851	0.200	3	142562770	missense variant	A/G	snv	0.55	0.63	6
rs746965070	NBN	0.827	0.200	8	89955487	missense variant	T/C	snv	1.2E-05		5
rs1360631927	ERCC2	0.851	0.200	19	45369114	missense variant	C/T	snv		7.0E-06	4
rs755024903	NLRP2	0.851	0.200	19	54983029	missense variant	G/A;T	snv	7.5E-05; 4.2E-06		4
rs774188914	ERCC5 ; BIVM-ERCC5	0.851	0.200	13	102858296	missense variant	C/G	snv	2.4E-05	1.4E-05	4
rs781367751	LIG3	0.851	0.200	17	34991822	missense variant	A/G	snv	1.2E-05		4
rs1060503460	NBN	0.925	0.200	8	89955461	missense variant	A/T	snv			2
rs1180868926	CAMK1 ; OGG1	0.925	0.200	3	9757095	missense variant	A/G	snv	4.0E-06		2
rs1181005582	NPRL3 ; MPG	0.925	0.200	16	85767	missense variant	C/T	snv		7.0E-06	2
rs1225118391	AGT	0.925	0.200	1	230710637	missense variant	T/C	snv	4.0E-06		2
rs139002770	ERCC2	0.925	0.200	19	45352772	missense variant	C/T	snv	8.0E-06		2
rs1436873982	XRCC1	0.925	0.200	19	43552212	missense variant	G/A	snv	8.0E-06		2
rs144271525	NLRP2	0.925	0.200	19	54983044	missense variant	C/T	snv	1.7E-04	3.4E-04	2
rs146084801	NLRP2	0.925	0.200	19	54983245	missense variant	C/T	snv	4.4E-05	1.5E-04	2
rs148298598	APEX1	0.925	0.200	14	20457111	missense variant	G/A	snv	2.3E-04	2.1E-04	2