DisGeNET - a database of gene-disease associations

List of associated variants

Respiratory Distress Syndrome, Newborn, C0035220

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
rs7956915	SCNN1A	1.000	0.080	12	6361094	intron variant	A/G	snv		0.52	1
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
rs13332514	ABCA3	0.925	0.080	16	2317335	synonymous variant	G/A	snv	0.17	0.12	2
rs17135889	ABCA3	0.925	0.080	16	2337259	intron variant	G/A	snv		0.11	2
rs170447	ABCA3	1.000	0.080	16	2299370	intron variant	T/C	snv	0.51	0.45	1
rs313909	ABCA3	1.000	0.080	16	2287992	intron variant	G/A;C	snv	0.42; 4.3E-06		1
rs323043	ABCA3	1.000	0.080	16	2298527	synonymous variant	G/A;C;T	snv	8.0E-06; 0.14; 4.0E-06		1
rs35996865	ROCK1	0.851	0.280	18	21112383	upstream gene variant	T/G	snv		0.28	4
rs2271255	ROCK1	1.000	0.080	18	21044113	missense variant	T/C	snv	3.6E-05	7.0E-06	1
rs531292167	ROCK1	1.000	0.080	18	21006431	missense variant	T/A	snv	4.0E-06		1