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
rs60369023	CDA	0.851	0.240	1	20604981	missense variant	G/A	snv	2.6E-04	1.5E-04	4
rs770085172	AGT	1.000	0.160	1	230710315	missense variant	T/C	snv		7.0E-06	1
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
rs764493111	EXO1	0.925	0.200	1	241858654	missense variant	G/A;T	snv	8.0E-06; 8.0E-06		2
rs746983719	EXO1	0.925	0.200	1	241860647	missense variant	T/C	snv	1.2E-05		2
rs781367751	LIG3	0.851	0.200	17	34991822	missense variant	A/G	snv	1.2E-05		4
rs2237857	FANCG	0.925	0.200	9	35076758	missense variant	G/A	snv	1.5E-02	3.0E-02	2
rs1799966	BRCA1	0.807	0.280	17	43071077	missense variant	T/A;C	snv	5.2E-05; 0.35		8
rs80357610	BRCA1	0.851	0.160	17	43094550	frameshift variant	GT/-	delins			7
rs80357091	BRCA1	1.000	0.160	17	43104910	missense variant	A/C;G	snv	8.0E-06		2
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1436873982	XRCC1	0.925	0.200	19	43552212	missense variant	G/A	snv	8.0E-06		2
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1402607735	PINLYP ; XRCC1	0.925	0.160	19	43575436	missense variant	T/C	snv	4.0E-06		2
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs121913026	ERCC2	0.851	0.400	19	45352235	missense variant	G/A	snv	2.4E-05	9.1E-05	4
rs144564120	ERCC2	0.925	0.160	19	45352249	missense variant	G/C	snv	3.1E-04	2.9E-04	2
rs758439420	ERCC2	1.000	0.160	19	45352351	missense variant	C/A;T	snv	8.0E-06; 1.6E-05		1
rs41556519	ERCC2	0.807	0.400	19	45352352	missense variant	G/A	snv	6.0E-05	2.8E-05	6
rs121913023	ERCC2	0.851	0.400	19	45352511	missense variant	C/T	snv	2.0E-05	1.4E-05	4
rs752510317	ERCC2	1.000	0.160	19	45352556	missense variant	G/A	snv	1.2E-05		1
rs762141272	ERCC2	0.882	0.160	19	45352579	missense variant	C/T	snv	1.6E-05	7.0E-06	3