DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Respiratory Distress Syndrome ×

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
rs149989682	ABCA3	0.790	0.240	16	2317763	missense variant	T/A;C	snv	2.3E-03		10
rs117603931	ABCA3	0.882	0.080	16	2319591	missense variant	C/T	snv	5.7E-03	6.5E-03	4
rs146709251	ABCA3	0.882	0.080	16	2279070	missense variant	G/A	snv	4.3E-03	3.0E-03	3