DisGeNET - a database of gene-disease associations

Source: ALL

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

Variants associated to the Gene: XRCC4 ×

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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
rs1805377	XRCC4	0.689	0.480	5	83353124	splice acceptor variant	G/A	snv	0.23	0.25	19
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs28360071	XRCC4	0.708	0.240	5	83142293	intron variant	GATGAGGAAACTAACTCTCAGTGGTGTTTA/-	delins		0.48	18
rs6869366	XRCC4 ; TMEM167A	0.701	0.280	5	83075927	intron variant	T/G	snv		9.2E-02	18
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs2075685	TMEM167A ; XRCC4	0.724	0.320	5	83076846	intron variant	G/A;T	snv			14
rs2075686	TMEM167A ; XRCC4	0.742	0.240	5	83076927	intron variant	C/T	snv		1.7E-02	13
rs7727691	XRCC4 ; TMEM167A	0.763	0.200	5	83075876	intron variant	C/T	snv		0.32	9
rs10040363	XRCC4	0.882	0.080	5	83177826	intron variant	A/G	snv		0.50	3
rs9293329	XRCC4	0.882	0.080	5	83100768	intron variant	G/A	snv		7.3E-02	3