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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs80357091	BRCA1	1.000	0.160	17	43104910	missense variant	A/C;G	snv	8.0E-06		2
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs2308321	MGMT	0.653	0.480	10	129766800	missense variant	A/G	snv	9.3E-02	8.7E-02	29
rs2308327	MGMT	0.790	0.280	10	129766906	missense variant	A/G	snv	9.4E-02	8.7E-02	10
rs2307486	APEX1 ; OSGEP	0.790	0.240	14	20456045	missense variant	A/G	snv	7.4E-03	2.1E-03	7
rs1408543226	XPA	0.807	0.240	9	97675558	missense variant	A/G	snv		7.0E-06	6
rs2227928	ATR	0.851	0.200	3	142562770	missense variant	A/G	snv	0.55	0.63	6
rs778990691	CCNH	0.807	0.240	5	87395069	missense variant	A/G	snv	4.0E-06		6
rs781367751	LIG3	0.851	0.200	17	34991822	missense variant	A/G	snv	1.2E-05		4
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
rs1180868926	CAMK1 ; OGG1	0.925	0.200	3	9757095	missense variant	A/G	snv	4.0E-06		2
rs121913025	ERCC2	0.925	0.240	19	45357295	missense variant	A/G	snv			2
rs779346343	NBN	0.925	0.200	8	89970379	missense variant	A/G	snv	4.0E-06	7.0E-06	2
rs1312839452	NLRP2	1.000	0.160	19	54982237	missense variant	A/G	snv	4.0E-06		1
rs771366736	EGFR	1.000	0.160	7	55143380	missense variant	A/G	snv	8.0E-06	1.4E-05	1
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1060503460	NBN	0.925	0.200	8	89955461	missense variant	A/T	snv			2
rs587778271	ERCC2	0.925	0.160	19	45353296	frameshift variant	AA/-	delins		2.0E-04	2
rs77907221	XPC	0.882	0.160	3	14154795	intron variant	AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/-	delins			3
rs1568546120	ERCC2	1.000	0.160	19	45368993	splice acceptor variant	C/A	snv			2