DisGeNET - a database of gene-disease associations

Source: BEFREE

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

Variants associated to the Gene: ALK ×

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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
rs281864719	ALK	0.763	0.240	2	29220831	missense variant	A/C;G;T	snv			12
rs1057519783	ALK	0.851	0.080	2	29220747	missense variant	C/T	snv			9
rs1057519781	ALK	0.807	0.160	2	29209816	missense variant	C/G	snv			8
rs1057519698	ALK	0.827	0.120	2	29222347	missense variant	A/G;T	snv			6
rs1057519784	ALK	0.827	0.080	2	29220765	missense variant	G/T	snv			6
rs751306825	ALK	0.925	0.080	2	29220759	missense variant	G/A;T	snv	4.0E-06		4
rs113994091	ALK	0.882	0.160	2	29222407	missense variant	G/A;C	snv	3.2E-05		2
rs863225283	ALK	0.925	0.080	2	29213993	missense variant	A/C	snv			2
rs113994088	ALK	0.925	0.080	2	29222584	missense variant	C/G	snv			1
rs550608288	ALK	1.000	0.080	2	29717646	missense variant	T/C	snv	5.2E-05		1
rs958335893	ALK	1.000	0.080	2	29193478	missense variant	C/T	snv			1