DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3 ×

Variants associated to the Gene: ABCA3 ×

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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
rs121909182	ABCA3	1.000	0.040	16	2326027	missense variant	A/G	snv			1
rs121909183	ABCA3	1.000	0.040	16	2278348	missense variant	A/G	snv			1
rs121909184	ABCA3	1.000	0.040	16	2299442	missense variant	T/C	snv			1
rs28936691	ABCA3	1.000	0.040	16	2278016	missense variant	T/G	snv			1