Chronic obstructive pulmonary disease

0006510

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
13197	446997

Phenotype Definition

An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. [PMID:25943942]

Phenotype Comment

COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases.

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr15:48426484	rs1426654	SLC24A5	A>G	440	27086	154.0	2.282e-35	0.5528
chr15:48392165	rs1834640	-	A>G	555	31069	135.0	3.381e-31	0.608
chr1:159174683	rs2814778	ACKR1	T>C	314	19063	103.6	2.509e-24	0.563
chr5:33958959	rs28777	SLC45A2	A>C	1222	55770	100.4	1.267e-23	0.7443
chr23:71628912	rs3012642	AL133500.1	A>G	369	22355	100.0	1.524e-23	0.5923
chr5:147863034	rs9325101	HTR4	A>G	263	16477	96.74	7.921e-23	0.5461
chr6:136480972	rs9483910	PDE7B	C>T	368	21002	96.0	1.15e-22	0.5986
chr5:33951693	rs16891982	SLC45A2	G>C	1485	65573	95.96	1.17e-22	0.7683
chr6:170242949	rs9396958	-	T>C	253	15861	92.94	5.404e-22	0.5463
chr6:3665772	rs9502040	-	G>A	290	17305	90.8	1.59e-21	0.5712
chr5:147671850	rs7724380	-	G>A	348	19835	90.22	2.134e-21	0.5997
chr2:171380643	rs34020565	MYO3B	T>G	456	24403	89.84	2.578e-21	0.6389
chr5:54280007	rs1508890	ESM1	C>A	309	18107	89.69	2.786e-21	0.5828
chr9:127267689	rs3814134	NR5A1	A>G	563	28643	87.27	9.457e-21	0.6709
chr2:226686177	rs7581591	-	T>C	344	19491	86.39	1.479e-20	0.6044
chr6:3185712	rs7754077	-	C>T	318	18354	86.31	1.538e-20	0.593
chr17:29298304	rs7225888	RNF135	C>G	347	19588	86.13	1.683e-20	0.6062
chr6:144665357	rs6917261	UTRN	T>C	195	12920	85.98	1.815e-20	0.5171
chr17:29290106	rs55861543	-	C>T	366	20393	85.98	1.821e-20	0.6142
chr14:33956209	rs1012023	NPAS3	C>A	659	32401	84.98	3.012e-20	0.6941
chr15:78898723	rs12914385	CHRNA3	C>T	10685	340168	64.39	1.02e-15	1.108
chr15:78911181	rs8040868	CHRNA3	T>C	10941	349805	57.77	2.952e-14	1.101
chr15:78878541	rs951266	CHRNA5	G>A	9262	293810	57.36	3.62e-14	1.104
chr15:78873993	rs7180002	CHRNA5	A>T	9260	293725	57.2	3.939e-14	1.104
chr15:78882925	rs16969968	CHRNA5	G>A	9279	294665	56.11	6.847e-14	1.103
chr15:78911672	rs4243084	CHRNA3	G>C	9414	299459	55.33	1.021e-13	1.102
chr15:78894339	rs1051730	CHRNA3	G>A	9265	294315	55.31	1.028e-13	1.102
chr15:78867482	rs17486278	CHRNA5	A>C	9278	294943	54.48	1.568e-13	1.101
chr15:78802869	rs9788721	HYKK	T>C	9522	303055	54.38	1.656e-13	1.101
chr15:78806023	rs8034191	HYKK	T>C	9377	298152	54.11	1.897e-13	1.101
chr15:78868636	rs72740964	CHRNA5	G>A	9148	290718	53.98	2.025e-13	1.101
chr6:396321	rs12203592	IRF4	C>T	6199	192716	53.4	2.715e-13	1.114
chr15:78814046	rs10519203	HYKK	A>G	9409	299539	52.43	4.452e-13	1.099
chr15:78754000	rs1964678	IREB2	G>A	9515	341938	52.32	4.718e-13	0.9102
chr15:78789488	rs13180	IREB2	T>C	9568	343692	52.31	4.749e-13	0.9103
chr15:78774271	rs8042238	IREB2	T>C	9565	343596	52.17	5.102e-13	0.9104
chr15:78857939	rs55853698	CHRNA5	T>G	9360	298083	51.78	6.196e-13	1.099
chr15:78826180	rs931794	HYKK	A>G	9389	299300	51.49	7.178e-13	1.098
chr15:78896129	rs1317286	CHRNA3	A>G	9325	296958	51.34	7.767e-13	1.098
chr15:78857986	rs55781567	CHRNA5	C>G	9352	298023	51.33	7.811e-13	1.098

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr16:60361691	rs80027631	-	G>A	299	15	28.36	1.008e-07	0.2628
chr6:32377053	rs116835963	-	C>T	410	18	27.2	1.836e-07	0.2977
chr9:84242375	rs79955842	TLE1	A>G	279	14	26.91	2.131e-07	0.2606
chr7:8979628	rs74502274	-	T>C	1314	39	26.75	2.317e-07	0.4219
chr14:55834585	rs45470002	ATG14	A>G	1638	46	26.26	2.978e-07	0.4506
chr22:47973949	rs115118	-	G>A	949	31	26.0	3.419e-07	0.3917
chr12:131036199	rs75714868	RIMBP2	G>A	286	14	25.55	4.31e-07	0.2688
chr6:4044942	rs115419839	PRPF4B	A>G	1371	40	25.19	5.2e-07	0.4369
chr6:32384527	rs9268541	-	T>C	1578	44	24.72	6.637e-07	0.4546
chr17:41592920	rs72833132	DHX8	C>T	522	20	23.29	1.396e-06	0.3405
chr13:20622817	rs116904224	ZMYM2	A>G	412	17	23.03	1.591e-06	0.3161
chr6:32637867	rs35788076	-	G>A	597	22	22.83	1.773e-06	0.3592
chr6:32679690	rs3129727	-	C>T	613	22	22.32	2.311e-06	0.3632
chr6:163915611	rs117765914	QKI	C>T	314	14	21.85	2.946e-06	0.2941
chr7:131887841	rs73155278	PLXNA4	C>T	1256	36	21.85	2.951e-06	0.4453
chr4:141879334	rs116356465	RNF150	C>T	501	19	21.65	3.279e-06	0.3447
chr1:63159531	rs78994645	-	A>G	295	13	21.49	3.552e-06	0.2851
chr9:111373144	rs117272108	-	A>G	464	18	21.38	3.775e-06	0.3381
chr11:33606545	rs117542557	KIAA1549L	C>G	426	17	21.34	3.838e-06	0.3291
chr5:178890302	rs4701162	-	A>G	3564	78	20.83	5.011e-06	0.5599
chr6:32384527	rs9268541	-	T>C	1414	44	30.5	3.34e-08	0.4179
chr16:60361691	rs80027631	-	G>A	290	15	28.3	1.038e-07	0.2628
chr6:32377053	rs116835963	-	C>T	398	18	27.11	1.921e-07	0.2979
chr6:32637867	rs35788076	-	G>A	542	22	26.09	3.263e-07	0.336
chr9:84242375	rs79955842	TLE1	A>G	276	14	25.98	3.447e-07	0.2659
chr12:131036199	rs75714868	RIMBP2	G>A	277	14	25.56	4.282e-07	0.2684
chr6:32679690	rs3129727	-	C>T	560	22	25.27	4.985e-07	0.3416
chr5:178890302	rs4701162	-	A>G	3313	78	24.59	7.094e-07	0.5326
chr22:47973949	rs115118	-	G>A	907	30	24.05	9.401e-07	0.3997
chr6:4044942	rs115419839	PRPF4B	A>G	1354	40	23.96	9.812e-07	0.4452
chr6:32236054	rs3132933	-	G>T	1219	37	23.92	1.005e-06	0.4336
chr6:32283394	rs493136	TSBP1	A>G	1223	37	23.84	1.048e-06	0.4341
chr14:55834585	rs45470002	ATG14	A>G	1603	45	23.49	1.253e-06	0.4661
chr13:20622817	rs116904224	ZMYM2	A>G	399	17	23.09	1.549e-06	0.3155
chr6:32597110	rs116106319	HLA-DQA1	G>T	549	21	22.94	1.674e-06	0.3507
chr7:8979628	rs74502274	-	T>C	1258	37	22.8	1.802e-06	0.4412
chr6:32233814	rs3115562	-	C>T	1255	37	22.16	2.507e-06	0.4468
chr6:163915611	rs117765914	QKI	C>T	306	14	21.64	3.296e-06	0.2955
chr6:32286761	rs498422	TSBP1	T>G	1508	42	21.54	3.472e-06	0.4709
chr1:63159531	rs78994645	-	A>G	285	13	21.44	3.659e-06	0.2852

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: J441	Chronic obstructive pulmonary disease with acute exacerbation, unspecified	1/20
ICD: J449	Chronic obstructive pulmonary disease, unspecified	14/20

ID	Name	Top Correlation
ICD-10: J069	Acute upper respiratory infection, unspecified	0/20
ICD-10: J448	Other specified chronic obstructive pulmonary disease	0/20
ICD-10: J958	Other postprocedural respiratory disorders	0/20
ICD-10: J989	Respiratory disorder, unspecified	0/20
ICD-10: T598	Other specified gases, fumes and vapours	0/20