DisGeNET - a database of gene-disease associations

List of shared variants

Cystic Fibrosis, C0010674

Disease: Lung diseases

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
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21
rs78655421	CFTR	0.716	0.240	7	117530975	missense variant	G/A;C;T	snv	1.5E-03; 1.2E-05		18
rs213950	CFTR-AS1 ; CFTR	0.716	0.320	7	117559479	missense variant	G/A	snv	0.47	0.57	16
rs75527207	CFTR	0.732	0.440	7	117587806	missense variant	G/A	snv	1.8E-04	3.0E-04	15
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs721917	SFTPD	0.752	0.360	10	79946568	missense variant	A/G	snv	0.47	0.42	14
rs1800076	CFTR	0.763	0.200	7	117509093	missense variant	G/A;T	snv	1.5E-02; 8.0E-06		10
rs397508638	CFTR	0.807	0.160	7	117652871	frameshift variant	A/-;AA	delins			9
rs75541969	CFTR	0.827	0.200	7	117614699	missense variant	G/C	snv	4.0E-04	3.2E-04	9
rs80034486	CFTR	0.807	0.160	7	117652877	missense variant	C/G	snv	1.4E-04	1.6E-04	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
rs2227307	CXCL8	0.851	0.240	4	73740952	intron variant	T/G	snv		0.45	6
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
rs193922500	CFTR-AS1 ; CFTR	0.851	0.160	7	117548798	missense variant	T/C	snv	2.0E-04	4.9E-05	5
rs35169799	PLCB3	0.925	0.200	11	64263769	missense variant	C/T	snv	4.9E-02	4.5E-02	5
rs74767530	CFTR	0.851	0.320	7	117627537	stop gained	C/T	snv	5.6E-05	4.9E-05	5
rs7512462	SLC26A9	0.882	0.200	1	205930467	intron variant	T/C	snv		0.38	4
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
rs1143639	IL1B	1.000	0.120	2	112831216	non coding transcript exon variant	C/T	snv		0.20	2