DisGeNET - a database of gene-disease associations

List of associated variants

Xeroderma pigmentosum, group F, C0268140

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs6498486	ERCC4	0.776	0.200	16	13919809	upstream gene variant	A/C	snv		0.27	8
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs764731249	ERCC4	1.000	0.160	16	13928118	missense variant	A/G	snv	4.0E-06		1
rs1555468482	ERCC4	0.882	0.240	16	13935663	frameshift variant	C/-	del			3
rs2276466	ERCC4	0.732	0.320	16	13949318	3 prime UTR variant	C/A;G	snv			15
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
rs2298881	ERCC1	0.653	0.400	19	45423658	intron variant	C/A;T	snv			25
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
rs2020959	ERCC4	0.882	0.200	16	13947765	stop gained	C/A;T	snv	3.2E-05; 2.4E-05		4
rs147105770	ERCC4	0.776	0.280	16	13935697	missense variant	C/G;T	snv	1.2E-05; 6.4E-05		8
rs121913049	ERCC4	0.851	0.240	16	13947991	missense variant	C/G;T	snv	4.8E-04		4
rs1799802	ERCC4	0.925	0.200	16	13934224	missense variant	C/T	snv	4.0E-03	4.6E-03	2
rs1800067	ERCC4	0.716	0.320	16	13935176	missense variant	G/A	snv	5.6E-02	5.3E-02	17
rs759843019	ERCC4	0.807	0.240	16	13920188	missense variant	G/A	snv	8.2E-06	7.0E-06	6
rs1799798	ERCC4	1.000	0.160	16	13920421	intron variant	G/A	snv	0.12	7.7E-02	1
rs769679311	ERCC4	1.000	0.160	16	13935469	missense variant	G/A	snv	4.0E-06		1
rs912480692	ERCC4	1.000	0.160	16	13935401	missense variant	G/A	snv			1
rs121913028	ERCC1	0.851	0.400	19	45414870	missense variant	G/A;C	snv	1.2E-05; 1.6E-05		4
rs2276465	ERCC4	0.882	0.200	16	13949157	3 prime UTR variant	G/A;C	snv			3
rs180067	LINC01497	1.000	0.160	17	69961633	non coding transcript exon variant	G/A;C;T	snv			1
rs74737358	XPC	0.925	0.160	3	14158882	missense variant	G/A;T	snv	8.1E-06; 2.6E-03		2
rs744154	ERCC4	0.763	0.280	16	13921224	intron variant	G/C	snv		0.23	11
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242