DisGeNET - a database of gene-disease associations

List of associated variants

Xeroderma Pigmentosum, Complementation Group D, C0268138

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
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs60369023	CDA	0.851	0.240	1	20604981	missense variant	G/A	snv	2.6E-04	1.5E-04	4
rs1225118391	AGT	0.925	0.200	1	230710637	missense variant	T/C	snv	4.0E-06		2
rs560299246	EXO1	0.925	0.200	1	241858594	missense variant	C/T	snv	8.0E-05	7.0E-06	2
rs746983719	EXO1	0.925	0.200	1	241860647	missense variant	T/C	snv	1.2E-05		2
rs764493111	EXO1	0.925	0.200	1	241858654	missense variant	G/A;T	snv	8.0E-06; 8.0E-06		2
rs770085172	AGT	1.000	0.160	1	230710315	missense variant	T/C	snv		7.0E-06	1
rs369137693	ANTXR1	0.925	0.200	2	69193414	missense variant	C/T	snv	2.8E-05	1.4E-05	2
rs747908253	ANTXR1	0.925	0.200	2	69182599	missense variant	G/A	snv	1.6E-05		2
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38
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
rs77907221	XPC	0.882	0.160	3	14154795	intron variant	AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/-	delins			3
rs1180868926	CAMK1 ; OGG1	0.925	0.200	3	9757095	missense variant	A/G	snv	4.0E-06		2
rs373917450	XPC	0.925	0.160	3	14158365	missense variant	G/T	snv	4.0E-06		2
rs761032372	CAMK1 ; OGG1	0.925	0.200	3	9759215	missense variant	C/A;T	snv	8.0E-06		2
rs778990691	CCNH	0.807	0.240	5	87395069	missense variant	A/G	snv	4.0E-06		6
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs2066853	AHR	0.653	0.600	7	17339486	missense variant	G/A	snv	0.15	0.22	34
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs1405999227	EGFR	0.925	0.160	7	55156637	missense variant	A/G	snv	4.0E-06		3
rs1160237842	FASTK	1.000	0.160	7	151078668	missense variant	A/G	snv	8.0E-06		2