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ICD-10
HPO
Compare GWAS

Super Class
Other pulmonary heart diseases
Sub Class

Primary pulmonary hypertension

I27.0

Case/Control GWAS ^ⓘ

GWAS of I270

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Interactive Plot

Statistics

Case	Control
564	459641

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr4:111516322	rs113989538	-	T>A	37	12898	27.83	1.322e-07	2.353
chr1:6544007	rs2986749	PLEKHG5	A>G	218	127339	26.18	3.106e-07	1.463
chr1:6550505	rs11806429	PLEKHG5	C>T	177	99882	25.05	5.587e-07	1.499
chr9:29395695	rs76436935	-	G>A	37	13556	24.18	8.773e-07	2.227
chr1:6557009	rs3007430	PLEKHG5	A>C	204	119707	23.12	1.52e-06	1.444
chr5:179313883	rs62407264	TBC1D9B	G>A	86	112107	22.96	1.655e-06	0.5886
chr7:95550281	rs319326	DYNC1I1	G>A	133	72434	21.97	2.764e-06	1.534
chr21:34572058	rs76681806	-	G>A	79	38405	21.19	4.162e-06	1.699
chr1:61256836	rs142763482	-	C>T	36	13808	20.96	4.693e-06	2.133
chr3:68329124	rs73836844	TAFA1	T>C	42	17088	20.74	5.269e-06	2.017
chr13:70374689	rs67258245	KLHL1	A>G	493	335428	20.45	6.131e-06	1.302
chr22:51122593	rs9616934	SHANK3	C>A	203	122094	20.42	6.221e-06	1.414
chr8:79503667	rs116976248	PKIA	T>C	46	19696	19.38	1.072e-05	1.918
chr8:52929877	rs2433235	-	C>T	197	117860	19.35	1.088e-05	1.406
chr6:32782112	rs11575907	HLA-DOB	C>T	69	33275	19.29	1.121e-05	1.714
chr19:687729	rs56279253	PRSS57	T>G	73	35584	19.27	1.133e-05	1.69
chr17:27815176	rs62066619	TAOK1	T>G	35	13707	19.09	1.247e-05	2.083
chr2:238092122	rs7355390	-	C>T	142	80482	19.04	1.278e-05	1.474
chr7:44085392	rs73693646	DBNL	A>G	28	10130	19.04	1.279e-05	2.255
chr22:51146139	rs5770992	SHANK3	A>G	185	111048	18.75	1.492e-05	1.412

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation

ID	Name	Top Correlation
HP: 0000118	Phenotypic abnormality	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001708	Right ventricular failure	0/20
HP: 0002086	Abnormality of the respiratory system	0/20
HP: 0002088	Abnormal lung morphology	0/20
HP: 0002092	Pulmonary arterial hypertension	0/20
HP: 0002597	Abnormality of the vasculature	0/20
HP: 0002795	Functional respiratory abnormality	0/20
HP: 0004414	Abnormality of the pulmonary artery	0/20
HP: 0004890	Elevated pulmonary artery pressure	0/20
HP: 0004930	Abnormality of the pulmonary vasculature	0/20
HP: 0011025	Abnormal cardiovascular system physiology	0/20
HP: 0012252	Abnormal respiratory system morphology	0/20
HP: 0030163	Abnormal vascular physiology	0/20
HP: 0030872	Abnormal cardiac ventricular function	0/20
HP: 0030875	Abnormality of pulmonary circulation	0/20
HP: 0030972	Abnormal systemic blood pressure	0/20
HP: 0032263	Increased blood pressure	0/20