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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
rs121917834	SFTPC	0.790	0.080	8	22163096	missense variant	T/A;C	snv	3.6E-05		10
rs1800076	CFTR	0.763	0.200	7	117509093	missense variant	G/A;T	snv	1.5E-02; 8.0E-06		10
rs1130866	SFTPB	0.827	0.160	2	85666618	missense variant	G/A;C	snv	0.50		9
rs397508638	CFTR	0.807	0.160	7	117652871	frameshift variant	A/-;AA	delins			9
rs74551128	CFTR-AS1 ; CFTR	0.807	0.160	7	117548795	missense variant	C/A;T	snv	5.3E-05; 5.7E-05		8
rs77932196	CFTR	0.790	0.280	7	117540270	missense variant	G/A;C;T	snv	2.4E-05; 2.4E-05		8
rs113857788	CFTR	0.882	0.160	7	117664780	missense variant	G/C;T	snv	1.0E-03; 6.0E-05		5
rs121909005	CFTR	0.851	0.160	7	117587801	missense variant	T/A;C;G	snv	4.0E-06; 8.0E-06		5
rs121908757	CFTR	0.925	0.160	7	117587799	missense variant	A/C	snv	4.0E-06		3
rs1078761	BPIFB1	1.000	0.120	20	33288875	missense variant	A/C;G	snv	4.1E-06; 0.30		2
rs3788766	SLC6A14	1.000	0.040	X	116435671	upstream gene variant	G/A	snv			2
rs772717932	IL1B	1.000	0.040	2	112830530	missense variant	C/A;T	snv	4.0E-06; 1.6E-05		2
rs764491141	TGFB1			19	41352886	synonymous variant	G/A	snv			1
rs1221395132	PHRF1 ; IRF7			11	612721	missense variant	C/T	snv		7.0E-06	1
rs1022113606	SOD3	0.732	0.280	4	24800161	missense variant	G/C	snv	1.6E-04	2.1E-05	17
rs761711628	SERPINA1			14	94379496	missense variant	C/A;T	snv	1.4E-04	2.1E-05	1
rs778055276	LOC105374071 ; PARP9			3	122555701	missense variant	T/C	snv	4.4E-05	3.5E-05	1
rs74767530	CFTR	0.851	0.320	7	117627537	stop gained	C/T	snv	5.6E-05	4.9E-05	5
rs193922500	CFTR-AS1 ; CFTR	0.851	0.160	7	117548798	missense variant	T/C	snv	2.0E-04	4.9E-05	5
rs80034486	CFTR	0.807	0.160	7	117652877	missense variant	C/G	snv	1.4E-04	1.6E-04	9