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
rs238406	ERCC2	0.677	0.480	19	45365051	synonymous variant	T/G	snv	0.58	0.65	23
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs755174338	ERCC2	0.732	0.360	19	45364096	missense variant	C/T	snv	2.6E-05	1.4E-05	15
rs1805329	RAD23B	0.732	0.400	9	107322047	missense variant	C/T	snv	0.20	0.16	15
rs745564626	XRCC3 ; KLC1	0.752	0.280	14	103699003	missense variant	C/G;T	snv	4.3E-05		14
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
rs2308327	MGMT	0.790	0.280	10	129766906	missense variant	A/G	snv	9.4E-02	8.7E-02	10
rs767551092	XPC	0.790	0.200	3	14164838	missense variant	G/A	snv	4.0E-06		10
rs1799966	BRCA1	0.807	0.280	17	43071077	missense variant	T/A;C	snv	5.2E-05; 0.35		8
rs756340448	ERCC2	0.790	0.240	19	45369135	synonymous variant	G/A	snv	4.0E-06	7.0E-06	8
rs2307486	APEX1 ; OSGEP	0.790	0.240	14	20456045	missense variant	A/G	snv	7.4E-03	2.1E-03	7
rs80357610	BRCA1	0.851	0.160	17	43094550	frameshift variant	GT/-	delins			7
rs2227928	ATR	0.851	0.200	3	142562770	missense variant	A/G	snv	0.55	0.63	6
rs778990691	CCNH	0.807	0.240	5	87395069	missense variant	A/G	snv	4.0E-06		6
rs41556519	ERCC2	0.807	0.400	19	45352352	missense variant	G/A	snv	6.0E-05	2.8E-05	6
rs143810759	LIG4	0.851	0.280	13	108210371	missense variant	C/T	snv	1.6E-04	2.1E-04	6
rs1408543226	XPA	0.807	0.240	9	97675558	missense variant	A/G	snv		7.0E-06	6
rs121913016	ERCC2	0.827	0.160	19	45357368	missense variant	G/C	snv	1.2E-03	4.4E-04	5
rs746965070	NBN	0.827	0.200	8	89955487	missense variant	T/C	snv	1.2E-05		5
rs60369023	CDA	0.851	0.240	1	20604981	missense variant	G/A	snv	2.6E-04	1.5E-04	4
rs121913023	ERCC2	0.851	0.400	19	45352511	missense variant	C/T	snv	2.0E-05	1.4E-05	4
rs121913024	ERCC2	0.851	0.400	19	45352802	missense variant	G/A	snv	5.6E-05	3.5E-05	4
rs121913026	ERCC2	0.851	0.400	19	45352235	missense variant	G/A	snv	2.4E-05	9.1E-05	4