DisGeNET - a database of gene-disease associations

List of associated variants

Chronic lung disease, C0746102

Source: ALL

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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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1178187217	DNAH11	0.683	0.480	7	21600085	missense variant	G/A;T	snv	4.3E-06		38
rs201943194	DNAH11	0.683	0.480	7	21710596	stop gained	C/T	snv	8.5E-05	8.4E-05	38
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs121918130	INPP5E	0.716	0.360	9	136433182	missense variant	G/A;T	snv	3.4E-05; 4.2E-06		18
rs140119177	FAM120AOS	0.851	0.160	9	93447639	missense variant	G/A	snv	6.8E-05	2.2E-04	7
rs11127	GNLY	0.925	0.160	2	85697606	missense variant	C/T	snv	0.39	0.31	3
rs13332514	ABCA3	0.925	0.080	16	2317335	synonymous variant	G/A	snv	0.17	0.12	2
rs1561285	GNLY	0.925	0.160	2	85697261	non coding transcript exon variant	C/G	snv		0.43	2
rs2886767	GNLY	0.925	0.160	2	85693206	intron variant	T/C	snv		0.29	2