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
rs2296147	BIVM-ERCC5 ; ERCC5	0.695	0.280	13	102846025	5 prime UTR variant	T/C	snv		0.38	21
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv		0.76	15
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs752661599	ERCC5 ; BIVM-ERCC5	1.000	0.160	13	102872262	frameshift variant	A/-;AA	delins			1
rs786200919	BIVM-ERCC5 ; ERCC5	1.000	0.160	13	102862263	frameshift variant	GGAA/-	delins			1
rs786200920	BIVM-ERCC5 ; ERCC5	1.000	0.160	13	102862640	frameshift variant	A/-	delins			1