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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1225118391	AGT	0.925	0.200	1	230710637	missense variant	T/C	snv	4.0E-06		2
rs770085172	AGT	1.000	0.160	1	230710315	missense variant	T/C	snv		7.0E-06	1
rs2066853	AHR	0.653	0.600	7	17339486	missense variant	G/A	snv	0.15	0.22	34
rs369137693	ANTXR1	0.925	0.200	2	69193414	missense variant	C/T	snv	2.8E-05	1.4E-05	2
rs747908253	ANTXR1	0.925	0.200	2	69182599	missense variant	G/A	snv	1.6E-05		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
rs148298598	APEX1	0.925	0.200	14	20457111	missense variant	G/A	snv	2.3E-04	2.1E-04	2
rs2307486	APEX1 ; OSGEP	0.790	0.240	14	20456045	missense variant	A/G	snv	7.4E-03	2.1E-03	7
rs2227928	ATR	0.851	0.200	3	142562770	missense variant	A/G	snv	0.55	0.63	6
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
rs1180868926	CAMK1 ; OGG1	0.925	0.200	3	9757095	missense variant	A/G	snv	4.0E-06		2
rs761032372	CAMK1 ; OGG1	0.925	0.200	3	9759215	missense variant	C/A;T	snv	8.0E-06		2
rs778990691	CCNH	0.807	0.240	5	87395069	missense variant	A/G	snv	4.0E-06		6
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs60369023	CDA	0.851	0.240	1	20604981	missense variant	G/A	snv	2.6E-04	1.5E-04	4
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs1405999227	EGFR	0.925	0.160	7	55156637	missense variant	A/G	snv	4.0E-06		3
rs758748662	EGFR	1.000	0.160	7	55155911	missense variant	G/A	snv	4.0E-06	1.4E-05	1
rs771366736	EGFR	1.000	0.160	7	55143380	missense variant	A/G	snv	8.0E-06	1.4E-05	1
rs771929085	EGFR	1.000	0.160	7	55155941	missense variant	G/A	snv	1.2E-05		1
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62