DisGeNET - a database of gene-disease associations

Source: ALL

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

Variants associated to the Gene: CHRNA3 ×

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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
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs12914385	CHRNA3	0.790	0.160	15	78606381	intron variant	C/A;T	snv			18
rs8040868	CHRNA3	0.742	0.240	15	78618839	synonymous variant	T/C	snv	0.35	0.37	17
rs578776	CHRNA3	0.742	0.240	15	78596058	3 prime UTR variant	G/A	snv		0.39	13
rs3743073	CHRNA3	0.807	0.120	15	78617197	intron variant	G/T	snv		0.61	11
rs8042374	CHRNA3	0.807	0.200	15	78615690	intron variant	A/G	snv		0.29	10
rs6495309	CHRNB4 ; CHRNA3	0.807	0.080	15	78622903	upstream gene variant	C/A;T	snv			10
rs12910984	CHRNA3	0.827	0.080	15	78599285	intron variant	G/A;C;T	snv			8
rs6495308	CHRNA3	0.851	0.160	15	78615314	intron variant	T/C	snv		0.29	8
rs3743078	CHRNA3	0.807	0.160	15	78602417	intron variant	C/A;G	snv			7
rs938682	CHRNA3	0.851	0.080	15	78604205	intron variant	G/A	snv		0.72	7
rs11637630	CHRNA3	0.882	0.080	15	78607377	intron variant	G/A	snv		0.71	6
rs7177514	CHRNA3	0.882	0.080	15	78615064	intron variant	C/G;T	snv			6
rs8042059	CHRNA3	0.882	0.080	15	78615517	intron variant	A/C;T	snv			6
rs2869546	CHRNA3	0.851	0.120	15	78615003	intron variant	C/T	snv		0.64	5