DisGeNET - a database of gene-disease associations

List of associated variants

Respiratory Distress Syndrome, Adult, C0035222

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
rs1042689672	SFTPA2	0.925	0.080	10	79557504	missense variant	A/G	snv		7.0E-06	2
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs1059046	SFTPA2	0.882	0.120	10	79559458	missense variant	G/C;T	snv	2.2E-05; 0.46		3
rs10905928	CELF2	1.000	0.040	10	11300924	intron variant	C/A	snv		0.21	1
rs11137480	S1PR3 ; C9orf47	0.882	0.120	9	88989662	upstream gene variant	G/C	snv		0.37	3
rs1130866	SFTPB	0.827	0.160	2	85666618	missense variant	G/A;C	snv	0.50		9
rs11362	DEFB1	0.742	0.360	8	6877877	5 prime UTR variant	C/T	snv	0.43	0.40	13
rs117603931	ABCA3	0.882	0.080	16	2319591	missense variant	C/T	snv	5.7E-03	6.5E-03	4
rs1190286	POPDC3 ; BVES-AS1	1.000	0.040	6	105163071	intron variant	C/T	snv		0.66	1
rs121434431	TLR3	0.851	0.080	4	186083346	missense variant	C/T	snv	4.1E-04	5.2E-04	4
rs12252	IFITM3	0.695	0.240	11	320772	splice region variant	A/G	snv	0.13	0.13	23
rs1320896171	PAFAH1B1	0.882	0.120	17	2680294	missense variant	C/T	snv		7.0E-06	3
rs1322403577	SFTPA1	0.882	0.120	10	79613818	missense variant	T/C	snv	4.0E-06		4
rs13402990	C2orf42 ; TIA1	1.000	0.040	2	70231632	intron variant	A/T	snv		9.7E-03	1
rs146709251	ABCA3	0.882	0.080	16	2279070	missense variant	G/A	snv	4.3E-03	3.0E-03	3
rs149989682	ABCA3	0.790	0.240	16	2317763	missense variant	T/A;C	snv	2.3E-03		10
rs151139112	PLA2G1B	1.000	0.040	12	120322275	missense variant	C/T	snv	8.9E-04	3.2E-03	1
rs1799946	DEFB1	0.732	0.360	8	6877909	5 prime UTR variant	C/T	snv	0.36	0.41	13
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1800450	MBL2	0.662	0.640	10	52771475	missense variant	C/T	snv	0.14	0.11	26
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1800796	IL6-AS1 ; STEAP1B ; IL6	0.555	0.760	7	22726627	non coding transcript exon variant	G/C	snv		9.9E-02	74
rs1800972	DEFB1	0.708	0.440	8	6877901	5 prime UTR variant	C/G;T	snv	0.79		16
rs1805018	PLA2G7	0.827	0.200	6	46711566	missense variant	A/G	snv	6.8E-02	0.10	6
rs1965708	SFTPA2	0.851	0.200	10	79557289	missense variant	G/T	snv	0.22	0.25	6