DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Non-Small Cell Lung Carcinoma ×

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
rs776223836	ERCC2	0.763	0.280	19	45364045	missense variant	G/A	snv			11
rs756340448	ERCC2	0.790	0.240	19	45369135	synonymous variant	G/A	snv	4.0E-06	7.0E-06	8
rs50872	ERCC2	0.827	0.120	19	45359191	intron variant	A/G;T	snv			5
rs1226085679	ERCC2 ; KLC3	0.882	0.120	19	45351663	missense variant	A/T	snv			3
rs139002770	ERCC2	0.925	0.200	19	45352772	missense variant	C/T	snv	8.0E-06		2
rs369012533	ERCC2	0.925	0.200	19	45352765	missense variant	G/A	snv	4.0E-06		2
rs238416	ERCC2	1.000	0.080	19	45353791	intron variant	T/A;C	snv			1