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
rs11137480	S1PR3 ; C9orf47	0.882	0.120	9	88989662	upstream gene variant	G/C	snv		0.37	3
rs1320896171	PAFAH1B1	0.882	0.120	17	2680294	missense variant	C/T	snv		7.0E-06	3
rs146709251	ABCA3	0.882	0.080	16	2279070	missense variant	G/A	snv	4.3E-03	3.0E-03	3
rs2664581	PI3	0.882	0.120	20	45175881	missense variant	A/C	snv	0.16	0.16	3
rs7022797	C9orf47 ; S1PR3	0.882	0.120	9	88989548	upstream gene variant	T/G	snv		0.38	3
rs761495176	NR3C1	0.882	0.080	5	143400263	missense variant	T/C	snv	1.7E-05		3
rs1965708	SFTPA2	0.851	0.200	10	79557289	missense variant	G/T	snv	0.22	0.25	6
rs4957796	FER	0.851	0.120	5	109066439	intron variant	T/C	snv		0.16	5
rs121434431	TLR3	0.851	0.080	4	186083346	missense variant	C/T	snv	4.1E-04	5.2E-04	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
rs3774934	NFKB1	0.851	0.080	4	102506319	intron variant	A/C;G;T	snv			4
rs1130866	SFTPB	0.827	0.160	2	85666618	missense variant	G/A;C	snv	0.50		9
rs1805018	PLA2G7	0.827	0.200	6	46711566	missense variant	A/G	snv	6.8E-02	0.10	6
rs533117495	ABCB1	0.827	0.200	7	87595783	missense variant	C/T	snv	8.0E-06		5
rs7744	MYD88	0.827	0.160	3	38142530	3 prime UTR variant	A/G	snv		0.13	5
rs149989682	ABCA3	0.790	0.240	16	2317763	missense variant	T/A;C	snv	2.3E-03		10
rs315952	IL1RN	0.763	0.400	2	113132727	missense variant	T/A;C	snv	4.0E-06; 0.31		10
rs11362	DEFB1	0.742	0.360	8	6877877	5 prime UTR variant	C/T	snv	0.43	0.40	13
rs2606345	CYP1A1	0.732	0.360	15	74724835	intron variant	C/A	snv		0.46	16
rs1799946	DEFB1	0.732	0.360	8	6877909	5 prime UTR variant	C/T	snv	0.36	0.41	13
rs61330082	NAMPT	0.732	0.320	7	106286419	upstream gene variant	G/A	snv		0.22	13
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs7096206	MBL2	0.708	0.480	10	52771925	upstream gene variant	G/A;C;T	snv			17
rs1800972	DEFB1	0.708	0.440	8	6877901	5 prime UTR variant	C/G;T	snv	0.79		16
rs12252	IFITM3	0.695	0.240	11	320772	splice region variant	A/G	snv	0.13	0.13	23