DisGeNET - a database of gene-disease associations

List of associated variants

Xeroderma pigmentosum, group G, C0268141

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
rs9514067	BIVM-ERCC5 ; ERCC5	1.000	0.160	13	102875580	stop gained	G/C;T	snv	1.00; 1.3E-04		1
rs929424117	ERCC5 ; BIVM-ERCC5	0.925	0.160	13	102866645	missense variant	T/C	snv	4.0E-06		2
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs786200920	BIVM-ERCC5 ; ERCC5	1.000	0.160	13	102862640	frameshift variant	A/-	delins			1
rs786200919	BIVM-ERCC5 ; ERCC5	1.000	0.160	13	102862263	frameshift variant	GGAA/-	delins			1
rs759843019	ERCC4	0.807	0.240	16	13920188	missense variant	G/A	snv	8.2E-06	7.0E-06	6
rs752661599	ERCC5 ; BIVM-ERCC5	1.000	0.160	13	102872262	frameshift variant	A/-;AA	delins			1
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv		0.76	15
rs561841803	XPC	1.000	0.160	3	14158384	missense variant	G/A	snv	8.0E-06	1.4E-05	1
rs4253211	ERCC6	0.882	0.240	10	49470271	missense variant	C/G;T	snv	7.1E-02; 2.0E-05		3
rs4150351	BIVM-ERCC5 ; ERCC5	0.925	0.160	13	102870617	intron variant	A/C;T	snv			2
rs267607281	ERCC5 ; BIVM-ERCC5	1.000	0.160	13	102846349	missense variant	C/A	snv			1
rs267607280	ERCC5 ; BIVM-ERCC5	1.000	0.160	13	102873283	missense variant	G/C	snv			1
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2296147	BIVM-ERCC5 ; ERCC5	0.695	0.280	13	102846025	5 prime UTR variant	T/C	snv		0.38	21
rs2230641	CCNH	0.807	0.240	5	87399457	missense variant	A/G;T	snv	0.18	0.17	8
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs2227869	ERCC5 ; BIVM-ERCC5	0.790	0.240	13	102862735	missense variant	G/A;C	snv	4.3E-02		9
rs2094258	ERCC5 ; BIVM-ERCC5	0.701	0.280	13	102844409	intron variant	C/T	snv		0.18	20
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs143305574	PGBD3 ; ERCC6	0.925	0.160	10	49517092	missense variant	T/A;C	snv	8.0E-06; 6.8E-05		2
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1244074570	ERCC5 ; BIVM-ERCC5	1.000	0.160	13	102866665	stop gained	C/G;T	snv	4.0E-06		1
rs121434577	ERCC5 ; BIVM-ERCC5	1.000	0.160	13	102854313	stop gained	C/G;T	snv			1