I83.2

Case	Control
87	460119

Case

Control

460119

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr9:37683158	rs76155273	AL138752.2	T>C	12	13117	35.87	2.109e-09	4.996
chr17:4391185	rs149163440	SPNS3	C>G	10	10029	33.3	7.882e-09	5.336
chr4:159140686	rs17214185	TMEM144	G>T	14	18420	31.28	2.233e-08	4.176
chr14:38263777	rs117889642	TTC6	C>T	13	16732	30.0	4.321e-08	4.245
chr4:95796896	rs76172175	BMPR1B	C>T	11	12971	29.25	6.368e-08	4.61
chr4:95684081	rs28463294	BMPR1B	T>G	10	11405	27.97	1.232e-07	4.746
chr4:37768632	rs1559687	-	G>A	9	9755	27.66	1.448e-07	5.035
chr20:50123002	rs77793604	NFATC2	G>A	12	15526	27.55	1.533e-07	4.217
chr4:7533530	rs78643650	SORCS2	T>C	13	18080	26.46	2.69e-07	3.934
chr4:159175846	rs7665333	TMEM144	G>A	16	25935	25.3	4.908e-07	3.44
chr1:61505869	rs75668162	NFIA	C>T	9	10542	24.07	9.267e-07	4.594
chr4:183350165	rs62339005	TENM3	T>C	13	19790	23.69	1.13e-06	3.693
chr2:15737304	rs114543516	DDX1	C>T	16	27548	23.66	1.147e-06	3.338
chr15:83377703	rs75959419	AP3B2	G>A	18	31849	23.66	1.15e-06	3.135
chr15:83334245	rs9806343	AP3B2	C>T	18	32025	23.43	1.297e-06	3.12
chr1:40773289	rs2075560	COL9A2	C>T	17	29658	23.42	1.304e-06	3.205
chr3:188361330	rs78444568	LPP	A>G	14	21908	23.09	1.55e-06	3.497
chr15:82443824	rs78664413	EFL1	C>T	21	40762	22.94	1.676e-06	2.883
chr18:73849418	rs78581906	-	G>A	17	29847	22.84	1.758e-06	3.164
chr4:117455654	rs115218729	-	A>G	14	22136	22.7	1.894e-06	3.464

Associated Phenotypes ^ⓘ

Name

Top Correlation

ID	Name	Top Correlation
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000152	Abnormality of head or neck	0/20
HP: 0000234	Abnormality of the head	0/20
HP: 0000271	Abnormality of the face	0/20
HP: 0000478	Abnormality of the eye	0/20
HP: 0000504	Abnormality of vision	0/20
HP: 0000505	Visual impairment	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001871	Abnormality of blood and blood-forming tissues	0/20
HP: 0001977	Abnormal thrombosis	0/20
HP: 0002597	Abnormality of the vasculature	0/20
HP: 0002619	Varicose veins	0/20
HP: 0002624	Abnormal venous morphology	0/20
HP: 0002644	Abnormality of pelvic girdle bone morphology	0/20
HP: 0002813	Abnormality of limb bone morphology	0/20
HP: 0002814	Abnormality of the lower limb	0/20
HP: 0004418	Thrombophlebitis	0/20
HP: 0004936	Venous thrombosis	0/20
HP: 0005293	Venous insufficiency	0/20
HP: 0008839	Hypoplastic pelvis	0/20
HP: 0009103	Aplasia/Hypoplasia involving the pelvis	0/20
HP: 0011025	Abnormal cardiovascular system physiology	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0011844	Abnormal appendicular skeleton morphology	0/20
HP: 0012373	Abnormal eye physiology	0/20
HP: 0025015	Abnormal vascular morphology	0/20
HP: 0030163	Abnormal vascular physiology	0/20
HP: 0030680	Abnormality of cardiovascular system morphology	0/20
HP: 0030846	Abnormality of venous physiology	0/20
HP: 0040064	Abnormality of limbs	0/20
HP: 0040068	Abnormality of limb bone	0/20
HP: 0040069	Abnormal lower limb bone morphology	0/20
HP: 0100704	Cerebral visual impairment	0/20

Name

Top Correlation

0/20

0/20

0/20