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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs1800450	MBL2	0.662	0.640	10	52771475	missense variant	C/T	snv	0.14	0.11	26
rs7096206	MBL2	0.708	0.480	10	52771925	upstream gene variant	G/A;C;T	snv			17
rs2682826	NOS1	0.807	0.280	12	117215033	3 prime UTR variant	G/A	snv		0.25	11
rs4149570	TNFRSF1A	0.752	0.360	12	6342424	upstream gene variant	A/C;G;T	snv			11
rs149989682	ABCA3	0.790	0.240	16	2317763	missense variant	T/A;C	snv	2.3E-03		10
rs2274567	CR1	0.776	0.400	1	207580276	missense variant	A/G	snv	0.25	0.21	10
rs121917834	SFTPC	0.790	0.080	8	22163096	missense variant	T/A;C	snv	3.6E-05		10
rs1130866	SFTPB	0.827	0.160	2	85666618	missense variant	G/A;C	snv	0.50		9
rs1966265	FGFR4	0.827	0.160	5	177089630	missense variant	G/A;T	snv	0.25		8
rs121918563	PRPH2	0.827	0.120	6	42721781	missense variant	A/G	snv	8.0E-06	1.4E-05	6
rs533117495	ABCB1	0.827	0.200	7	87595783	missense variant	C/T	snv	8.0E-06		5
rs117603931	ABCA3	0.882	0.080	16	2319591	missense variant	C/T	snv	5.7E-03	6.5E-03	4
rs35996865	ROCK1	0.851	0.280	18	21112383	upstream gene variant	T/G	snv		0.28	4
rs1322403577	SFTPA1	0.882	0.120	10	79613818	missense variant	T/C	snv	4.0E-06		4
rs28451617	ZSCAN25 ; CYP3A7-CYP3A51P ; CYP3A7	0.851	0.120	7	99735142	5 prime UTR variant	C/T	snv	9.2E-03	3.3E-02	4
rs146709251	ABCA3	0.882	0.080	16	2279070	missense variant	G/A	snv	4.3E-03	3.0E-03	3
rs761495176	NR3C1	0.882	0.080	5	143400263	missense variant	T/C	snv	1.7E-05		3
rs7316	SFTPB	0.882	0.160	2	85658890	3 prime UTR variant	T/C	snv		0.14	3
rs1124	SFTPC ; BMP1	0.882	0.160	8	22164004	missense variant	G/A	snv	0.30	0.26	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
rs10178332	ROCK2	0.925	0.120	2	11268891	intron variant	C/A;G	snv			2