DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Primary malignant neoplasm of lung ×

Variants associated to the Gene: ERCC2 ×

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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
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs755174338	ERCC2	0.732	0.360	19	45364096	missense variant	C/T	snv	2.6E-05	1.4E-05	15
rs171140	ERCC2	0.807	0.080	19	45361744	non coding transcript exon variant	C/A	snv	0.58	0.64	6
rs1360631927	ERCC2	0.851	0.200	19	45369114	missense variant	C/T	snv		7.0E-06	4
rs238415	ERCC2	0.851	0.120	19	45353977	intron variant	C/A;G;T	snv			4
rs3916874	ERCC2	0.851	0.120	19	45353668	intron variant	C/A;G	snv		0.19	4
rs748842373	ERCC2	0.882	0.080	19	45368728	stop gained	G/A;C;T	snv	8.1E-06; 4.0E-06; 4.0E-06		3