DisGeNET - a database of gene-disease associations

List of associated variants

Lung diseases, C0024115

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
rs1022113606	SOD3	0.732	0.280	4	24800161	missense variant	G/C	snv	1.6E-04	2.1E-05	17
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs1078761	BPIFB1	1.000	0.120	20	33288875	missense variant	A/C;G	snv	4.1E-06; 0.30		2
rs1130866	SFTPB	0.827	0.160	2	85666618	missense variant	G/A;C	snv	0.50		9
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs113857788	CFTR	0.882	0.160	7	117664780	missense variant	G/C;T	snv	1.0E-03; 6.0E-05		5
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs1143639	IL1B	1.000	0.120	2	112831216	non coding transcript exon variant	C/T	snv		0.20	2
rs11575934	IL12RB1	0.882	0.040	19	18075808	missense variant	T/C	snv	0.28	0.25	4
rs121908757	CFTR	0.925	0.160	7	117587799	missense variant	A/C	snv	4.0E-06		3
rs121909005	CFTR	0.851	0.160	7	117587801	missense variant	T/A;C;G	snv	4.0E-06; 8.0E-06		5
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121917834	SFTPC	0.790	0.080	8	22163096	missense variant	T/A;C	snv	3.6E-05		10
rs1221395132	PHRF1 ; IRF7			11	612721	missense variant	C/T	snv		7.0E-06	1
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs17563161	SLC9A3	0.882	0.040	5	497509	intron variant	G/A	snv		0.18	4
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs1799895	SOD3	0.683	0.360	4	24800212	missense variant	C/G	snv	2.3E-02	1.2E-02	26
rs1800076	CFTR	0.763	0.200	7	117509093	missense variant	G/A;T	snv	1.5E-02; 8.0E-06		10
rs193922500	CFTR-AS1 ; CFTR	0.851	0.160	7	117548798	missense variant	T/C	snv	2.0E-04	4.9E-05	5
rs1965708	SFTPA2	0.851	0.200	10	79557289	missense variant	G/T	snv	0.22	0.25	6
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs213950	CFTR-AS1 ; CFTR	0.716	0.320	7	117559479	missense variant	G/A	snv	0.47	0.57	16
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21