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
rs1360631927	ERCC2	0.851	0.200	19	45369114	missense variant	C/T	snv		7.0E-06	4
rs139002770	ERCC2	0.925	0.200	19	45352772	missense variant	C/T	snv	8.0E-06		2
rs1402607735	PINLYP ; XRCC1	0.925	0.160	19	43575436	missense variant	T/C	snv	4.0E-06		2
rs140522180	ERCC2	1.000	0.160	19	45353112	missense variant	C/A;T	snv	2.0E-05; 1.9E-04		1
rs1405999227	EGFR	0.925	0.160	7	55156637	missense variant	A/G	snv	4.0E-06		3
rs1408543226	XPA	0.807	0.240	9	97675558	missense variant	A/G	snv		7.0E-06	6
rs1436873982	XRCC1	0.925	0.200	19	43552212	missense variant	G/A	snv	8.0E-06		2
rs143810759	LIG4	0.851	0.280	13	108210371	missense variant	C/T	snv	1.6E-04	2.1E-04	6
rs144271525	NLRP2	0.925	0.200	19	54983044	missense variant	C/T	snv	1.7E-04	3.4E-04	2
rs144564120	ERCC2	0.925	0.160	19	45352249	missense variant	G/C	snv	3.1E-04	2.9E-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
rs148576448	NPRL3 ; MPG	0.925	0.200	16	85461	missense variant	G/A	snv	8.0E-05	8.4E-05	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
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs1799794	XRCC3 ; KLC1	0.763	0.320	14	103712930	splice region variant	T/C	snv		0.22	12
rs1799966	BRCA1	0.807	0.280	17	43071077	missense variant	T/A;C	snv	5.2E-05; 0.35		8
rs1805329	RAD23B	0.732	0.400	9	107322047	missense variant	C/T	snv	0.20	0.16	15
rs1805794	NBN	0.605	0.600	8	89978251	missense variant	C/G	snv	0.35	0.31	41
rs199475643	PAH	0.882	0.240	12	102894894	missense variant	T/C	snv	8.0E-06		3
rs200919197	MPG ; NPRL3	1.000	0.160	16	85481	missense variant	C/G;T	snv	1.2E-05; 9.6E-05		1
rs2066853	AHR	0.653	0.600	7	17339486	missense variant	G/A	snv	0.15	0.22	34