DisGeNET - a database of gene-disease associations

List of shared variants

Age related macular degeneration, C0242383

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
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	46
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv			33
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs1410996	CFH	0.807	0.240	1	196727803	intron variant	G/A	snv		0.46	11
rs2274700	CFH	0.776	0.240	1	196713817	synonymous variant	G/A;C;T	snv	0.44		11
rs10737680	CFH	0.827	0.080	1	196710325	intron variant	A/C	snv		0.44	9
rs1329428	CFH	0.807	0.160	1	196733680	intron variant	C/T	snv		0.44	9
rs1927907	TLR4	0.790	0.320	9	117710486	intron variant	C/T	snv		0.18	7
rs10922109	CFH	0.827	0.080	1	196735502	intron variant	C/A	snv		0.46	6
rs3753395	CFH	0.882	0.120	1	196717522	intron variant	A/G;T	snv			5
rs10922106	CFH	0.925	0.080	1	196722334	intron variant	A/G	snv		0.43	4
rs7540032	CFH	0.925	0.080	1	196732154	intron variant	C/T	snv		0.44	4