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
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1799794	XRCC3 ; KLC1	0.763	0.320	14	103712930	splice region variant	T/C	snv		0.22	12
rs776223836	ERCC2	0.763	0.280	19	45364045	missense variant	G/A	snv			11
rs941759532	ERCC4	0.763	0.240	16	13932175	missense variant	C/G	snv			11
rs80357610	BRCA1	0.851	0.160	17	43094550	frameshift variant	GT/-	delins			7
rs1408543226	XPA	0.807	0.240	9	97675558	missense variant	A/G	snv		7.0E-06	6
rs1360631927	ERCC2	0.851	0.200	19	45369114	missense variant	C/T	snv		7.0E-06	4
rs77907221	XPC	0.882	0.160	3	14154795	intron variant	AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/-	delins			3
rs1060503460	NBN	0.925	0.200	8	89955461	missense variant	A/T	snv			2
rs1181005582	NPRL3 ; MPG	0.925	0.200	16	85767	missense variant	C/T	snv		7.0E-06	2
rs121913025	ERCC2	0.925	0.240	19	45357295	missense variant	A/G	snv			2
rs1298314972	FASTK	1.000	0.160	7	151079887	missense variant	G/A	snv		7.0E-06	2
rs1568546120	ERCC2	1.000	0.160	19	45368993	splice acceptor variant	C/A	snv			2
rs1568546252	ERCC2	1.000	0.160	19	45369132	stop gained	C/A	snv			2
rs587778271	ERCC2	0.925	0.160	19	45353296	frameshift variant	AA/-	delins		2.0E-04	2
rs762309206	ERCC2	0.925	0.160	19	45364833	splice donor variant	CACT/-	delins		1.1E-04	2
rs770085172	AGT	1.000	0.160	1	230710315	missense variant	T/C	snv		7.0E-06	1
rs1405999227	EGFR	0.925	0.160	7	55156637	missense variant	A/G	snv	4.0E-06		3
rs748625642	MMAB	0.925	0.200	12	109568774	missense variant	T/C	snv	4.0E-06		2
rs1225118391	AGT	0.925	0.200	1	230710637	missense variant	T/C	snv	4.0E-06		2
rs772572683	ERCC2	1.000	0.160	19	45355676	missense variant	C/T	snv	4.0E-06		1
rs121913019	ERCC2	0.925	0.240	19	45354774	missense variant	T/C;G	snv	4.0E-06		3
rs756340448	ERCC2	0.790	0.240	19	45369135	synonymous variant	G/A	snv	4.0E-06	7.0E-06	8
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37