DisGeNET - a database of gene-disease associations

List of shared variants

Cystic Fibrosis, C0010674

Disease: Chronic Obstructive Airway Disease

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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv			32
rs113993959	CFTR	0.677	0.280	7	117587778	stop gained	G/A;T	snv	8.0E-06; 3.4E-04		25
rs74597325	CFTR	0.708	0.320	7	117587811	stop gained	C/G;T	snv	6.8E-05		18
rs213950	CFTR-AS1 ; CFTR	0.716	0.320	7	117559479	missense variant	G/A	snv	0.47	0.57	16
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
rs2077079	SFTPB	0.925	0.120	2	85668215	missense variant	T/G	snv	0.41	0.39	2
rs7929679	LOC102723568	0.925	0.120	11	34784302	regulatory region variant	A/G	snv		0.54	2