DisGeNET - a database of gene-disease associations

List of associated variants

UV-SENSITIVE SYNDROME 1, C3551173

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
rs376526037	ERCC6	0.776	0.440	10	49483504	stop gained	G/A	snv	1.6E-05	2.8E-05	8
rs121917901	ERCC6	0.790	0.440	10	49478437	stop gained	G/A	snv	7.2E-05	4.9E-05	7
rs373227647	ERCC6	0.790	0.440	10	49472472	splice acceptor variant	T/C	snv	8.0E-06	7.0E-06	7
rs121917902	ERCC6 ; PGBD3	0.790	0.440	10	49524073	stop gained	G/A	snv			7
rs121917903	ERCC6	0.925	0.160	10	49532736	stop gained	G/A	snv	8.0E-06	7.0E-06	2