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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1060503460	NBN	0.925	0.200	8	89955461	missense variant	A/T	snv			2
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1160237842	FASTK	1.000	0.160	7	151078668	missense variant	A/G	snv	8.0E-06		2
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
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
rs1194327405	TAF1	1.000	0.160	X	71377774	missense variant	G/A	snv	1.1E-05		1
rs121913016	ERCC2	0.827	0.160	19	45357368	missense variant	G/C	snv	1.2E-03	4.4E-04	5
rs121913019	ERCC2	0.925	0.240	19	45354774	missense variant	T/C;G	snv	4.0E-06		3
rs121913020	ERCC2	0.882	0.160	19	45368655	missense variant	C/T	snv	2.0E-05	6.3E-05	3
rs121913021	ERCC2	0.882	0.160	19	45352580	missense variant	G/A	snv	2.8E-05	4.2E-05	3
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
rs121913025	ERCC2	0.925	0.240	19	45357295	missense variant	A/G	snv			2
rs121913026	ERCC2	0.851	0.400	19	45352235	missense variant	G/A	snv	2.4E-05	9.1E-05	4
rs1225118391	AGT	0.925	0.200	1	230710637	missense variant	T/C	snv	4.0E-06		2
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs1298314972	FASTK	1.000	0.160	7	151079887	missense variant	G/A	snv		7.0E-06	2
rs1312839452	NLRP2	1.000	0.160	19	54982237	missense variant	A/G	snv	4.0E-06		1
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1340806384	ERCC2	1.000	0.160	19	45364442	missense variant	C/T	snv	4.0E-06		1