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
rs1298314972	FASTK	1.000	0.160	7	151079887	missense variant	G/A	snv		7.0E-06	2
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
rs1805794	NBN	0.605	0.600	8	89978251	missense variant	C/G	snv	0.35	0.31	41
rs746965070	NBN	0.827	0.200	8	89955487	missense variant	T/C	snv	1.2E-05		5
rs1060503460	NBN	0.925	0.200	8	89955461	missense variant	A/T	snv			2
rs778998026	NBN	0.925	0.200	8	89981502	missense variant	C/G;T	snv	1.6E-05		2
rs779346343	NBN	0.925	0.200	8	89970379	missense variant	A/G	snv	4.0E-06	7.0E-06	2
rs1805329	RAD23B	0.732	0.400	9	107322047	missense variant	C/T	snv	0.20	0.16	15
rs1408543226	XPA	0.807	0.240	9	97675558	missense variant	A/G	snv		7.0E-06	6
rs2237857	FANCG	0.925	0.200	9	35076758	missense variant	G/A	snv	1.5E-02	3.0E-02	2
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs2308321	MGMT	0.653	0.480	10	129766800	missense variant	A/G	snv	9.3E-02	8.7E-02	29
rs2308327	MGMT	0.790	0.280	10	129766906	missense variant	A/G	snv	9.4E-02	8.7E-02	10
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs199475643	PAH	0.882	0.240	12	102894894	missense variant	T/C	snv	8.0E-06		3
rs748625642	MMAB	0.925	0.200	12	109568774	missense variant	T/C	snv	4.0E-06		2
rs143810759	LIG4	0.851	0.280	13	108210371	missense variant	C/T	snv	1.6E-04	2.1E-04	6
rs774188914	ERCC5 ; BIVM-ERCC5	0.851	0.200	13	102858296	missense variant	C/G	snv	2.4E-05	1.4E-05	4
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
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
rs2307486	APEX1 ; OSGEP	0.790	0.240	14	20456045	missense variant	A/G	snv	7.4E-03	2.1E-03	7