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
rs1568546252	ERCC2	1.000	0.160	19	45369132	stop gained	C/A	snv			2
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
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
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs761032372	CAMK1 ; OGG1	0.925	0.200	3	9759215	missense variant	C/A;T	snv	8.0E-06		2
rs964247601	ERCC2	1.000	0.160	19	45368692	stop gained	C/A;T	snv	1.2E-05		2
rs140522180	ERCC2	1.000	0.160	19	45353112	missense variant	C/A;T	snv	2.0E-05; 1.9E-04		1
rs758439420	ERCC2	1.000	0.160	19	45352351	missense variant	C/A;T	snv	8.0E-06; 1.6E-05		1
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1805794	NBN	0.605	0.600	8	89978251	missense variant	C/G	snv	0.35	0.31	41
rs941759532	ERCC4	0.763	0.240	16	13932175	missense variant	C/G	snv			11
rs774188914	ERCC5 ; BIVM-ERCC5	0.851	0.200	13	102858296	missense variant	C/G	snv	2.4E-05	1.4E-05	4
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs745564626	XRCC3 ; KLC1	0.752	0.280	14	103699003	missense variant	C/G;T	snv	4.3E-05		14
rs376556895	ERCC2	0.851	0.400	19	45352801	missense variant	C/G;T	snv	1.5E-04; 8.0E-06		4
rs778998026	NBN	0.925	0.200	8	89981502	missense variant	C/G;T	snv	1.6E-05		2
rs200919197	MPG ; NPRL3	1.000	0.160	16	85481	missense variant	C/G;T	snv	1.2E-05; 9.6E-05		1
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38
rs1805329	RAD23B	0.732	0.400	9	107322047	missense variant	C/T	snv	0.20	0.16	15
rs755174338	ERCC2	0.732	0.360	19	45364096	missense variant	C/T	snv	2.6E-05	1.4E-05	15
rs143810759	LIG4	0.851	0.280	13	108210371	missense variant	C/T	snv	1.6E-04	2.1E-04	6
rs121913023	ERCC2	0.851	0.400	19	45352511	missense variant	C/T	snv	2.0E-05	1.4E-05	4