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
rs11575934	IL12RB1	0.882	0.040	19	18075808	missense variant	T/C	snv	0.28	0.25	4
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
rs772717932	IL1B	1.000	0.040	2	112830530	missense variant	C/A;T	snv	4.0E-06; 1.6E-05		2
rs778055276	LOC105374071 ; PARP9			3	122555701	missense variant	T/C	snv	4.4E-05	3.5E-05	1
rs35829419	NLRP3	0.689	0.560	1	247425556	missense variant	C/A	snv	3.9E-02	3.3E-02	23
rs1221395132	PHRF1 ; IRF7			11	612721	missense variant	C/T	snv		7.0E-06	1
rs35169799	PLCB3	0.925	0.200	11	64263769	missense variant	C/T	snv	4.9E-02	4.5E-02	5
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs761711628	SERPINA1			14	94379496	missense variant	C/A;T	snv	1.4E-04	2.1E-05	1
rs1965708	SFTPA2	0.851	0.200	10	79557289	missense variant	G/T	snv	0.22	0.25	6
rs1130866	SFTPB	0.827	0.160	2	85666618	missense variant	G/A;C	snv	0.50		9
rs121917834	SFTPC	0.790	0.080	8	22163096	missense variant	T/A;C	snv	3.6E-05		10
rs721917	SFTPD	0.752	0.360	10	79946568	missense variant	A/G	snv	0.47	0.42	14
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs7512462	SLC26A9	0.882	0.200	1	205930467	intron variant	T/C	snv		0.38	4
rs3788766	SLC6A14	1.000	0.040	X	116435671	upstream gene variant	G/A	snv			2
rs17563161	SLC9A3	0.882	0.040	5	497509	intron variant	G/A	snv		0.18	4
rs1799895	SOD3	0.683	0.360	4	24800212	missense variant	C/G	snv	2.3E-02	1.2E-02	26
rs1022113606	SOD3	0.732	0.280	4	24800161	missense variant	G/C	snv	1.6E-04	2.1E-05	17
rs764491141	TGFB1			19	41352886	synonymous variant	G/A	snv			1
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs3804100	TLR2	0.633	0.720	4	153704257	synonymous variant	T/C	snv	9.0E-02	6.7E-02	36