DisGeNET - a database of gene-disease associations

List of associated variants

Xeroderma pigmentosum, group G, C0268141

Source: UNIPROT ×

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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
rs121434575	BIVM-ERCC5 ; ERCC5	0.925	0.240	13	102868152	missense variant	T/C	snv			1
rs121434576	BIVM-ERCC5 ; ERCC5	1.000	0.160	13	102868199	missense variant	G/A	snv	2.4E-05	3.5E-05	1
rs121434571	ERCC5 ; BIVM-ERCC5	1.000	0.160	13	102866687	missense variant	C/A;T	snv	4.0E-06; 2.4E-05		1
rs121434574	ERCC5 ; BIVM-ERCC5	0.925	0.240	13	102852244	missense variant	C/A;T	snv	4.0E-06		1
rs267607280	ERCC5 ; BIVM-ERCC5	1.000	0.160	13	102873283	missense variant	G/C	snv			1
rs267607281	ERCC5 ; BIVM-ERCC5	1.000	0.160	13	102846349	missense variant	C/A	snv			1