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
rs17135889	ABCA3	0.925	0.080	16	2337259	intron variant	G/A	snv		0.11	2
rs1800450	MBL2	0.662	0.640	10	52771475	missense variant	C/T	snv	0.14	0.11	26
rs13332514	ABCA3	0.925	0.080	16	2317335	synonymous variant	G/A	snv	0.17	0.12	2
rs7316	SFTPB	0.882	0.160	2	85658890	3 prime UTR variant	T/C	snv		0.14	3
rs2274567	CR1	0.776	0.400	1	207580276	missense variant	A/G	snv	0.25	0.21	10
rs2682826	NOS1	0.807	0.280	12	117215033	3 prime UTR variant	G/A	snv		0.25	11
rs1124	SFTPC ; BMP1	0.882	0.160	8	22164004	missense variant	G/A	snv	0.30	0.26	3
rs35996865	ROCK1	0.851	0.280	18	21112383	upstream gene variant	T/G	snv		0.28	4
rs1923537		1.000	0.080	10	79935452	intron variant	A/G	snv		0.37	1
rs726843	ROCK2	1.000	0.080	2	11216064	intron variant	G/A	snv		0.38	1
rs170447	ABCA3	1.000	0.080	16	2299370	intron variant	T/C	snv	0.51	0.45	1
rs7956915	SCNN1A	1.000	0.080	12	6361094	intron variant	A/G	snv		0.52	1