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	Num. diseases
rs1405999227	EGFR	0.925	0.160	7	55156637	missense variant	A/G	snv	4.0E-06	3
rs199475643	PAH	0.882	0.240	12	102894894	missense variant	T/C	snv	8.0E-06	3
rs77907221	XPC	0.882	0.160	3	14154795	intron variant	AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/-	delins		3
rs1060503460	NBN	0.925	0.200	8	89955461	missense variant	A/T	snv		2
rs1160237842	FASTK	1.000	0.160	7	151078668	missense variant	A/G	snv	8.0E-06	2
rs1180868926	CAMK1 ; OGG1	0.925	0.200	3	9757095	missense variant	A/G	snv	4.0E-06	2
rs121913025	ERCC2	0.925	0.240	19	45357295	missense variant	A/G	snv		2
rs1225118391	AGT	0.925	0.200	1	230710637	missense variant	T/C	snv	4.0E-06	2
rs139002770	ERCC2	0.925	0.200	19	45352772	missense variant	C/T	snv	8.0E-06	2
rs1402607735	PINLYP ; XRCC1	0.925	0.160	19	43575436	missense variant	T/C	snv	4.0E-06	2
rs1436873982	XRCC1	0.925	0.200	19	43552212	missense variant	G/A	snv	8.0E-06	2
rs1568546120	ERCC2	1.000	0.160	19	45368993	splice acceptor variant	C/A	snv		2
rs1568546252	ERCC2	1.000	0.160	19	45369132	stop gained	C/A	snv		2
rs369012533	ERCC2	0.925	0.200	19	45352765	missense variant	G/A	snv	4.0E-06	2
rs373917450	XPC	0.925	0.160	3	14158365	missense variant	G/T	snv	4.0E-06	2
rs746983719	EXO1	0.925	0.200	1	241860647	missense variant	T/C	snv	1.2E-05	2
rs747908253	ANTXR1	0.925	0.200	2	69182599	missense variant	G/A	snv	1.6E-05	2
rs748625642	MMAB	0.925	0.200	12	109568774	missense variant	T/C	snv	4.0E-06	2
rs761032372	CAMK1 ; OGG1	0.925	0.200	3	9759215	missense variant	C/A;T	snv	8.0E-06	2
rs764493111	EXO1	0.925	0.200	1	241858654	missense variant	G/A;T	snv	8.0E-06; 8.0E-06	2
rs778998026	NBN	0.925	0.200	8	89981502	missense variant	C/G;T	snv	1.6E-05	2
rs80357091	BRCA1	1.000	0.160	17	43104910	missense variant	A/C;G	snv	8.0E-06	2
rs964247601	ERCC2	1.000	0.160	19	45368692	stop gained	C/A;T	snv	1.2E-05	2
rs1194327405	TAF1	1.000	0.160	X	71377774	missense variant	G/A	snv	1.1E-05	1
rs1312839452	NLRP2	1.000	0.160	19	54982237	missense variant	A/G	snv	4.0E-06	1