DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Carcinoma of lung ×

Variants associated to the Gene: ERCC6 ×

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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
rs2228526	ERCC6	0.752	0.200	10	49470671	missense variant	T/C	snv	0.22	0.19	13
rs376526037	ERCC6	0.776	0.440	10	49483504	stop gained	G/A	snv	1.6E-05	2.8E-05	8
rs3793784	ERCC6	0.827	0.120	10	49539493	5 prime UTR variant	G/C	snv		0.30	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
rs12571445	ERCC6	0.882	0.080	10	49514137	intron variant	A/G	snv		7.0E-03	3
rs4253160	ERCC6	0.882	0.080	10	49485920	intron variant	T/A	snv		0.31	3