Abnormal eyelid morphology

0000492

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
32182	428012

Phenotype Definition

An abnormality of the eyelids. [HPO:probinson]

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr5:33951693	rs16891982	SLC45A2	G>C	4163	62895	60.14	8.814e-15	0.8798
chr6:396321	rs12203592	IRF4	C>T	14737	186468	55.75	8.246e-14	1.075
chr2:211717706	rs12995612	-	C>G	916	15556	49.59	1.899e-12	0.7862
chr5:33958959	rs28777	SLC45A2	A>C	3553	53439	47.04	6.965e-12	0.8851
chr20:2315543	rs6132532	AL121899.2	A>G	3071	46463	44.58	2.441e-11	0.8805
chr9:16804167	rs10962612	BNC2	G>T	17428	243877	41.02	1.507e-10	0.9434
chr15:48426484	rs1426654	SLC24A5	A>G	1651	25875	39.07	4.083e-10	0.8517
chr3:54034087	rs6790990	-	A>G	3901	57696	37.89	7.5e-10	0.9004
chr2:135837906	rs7570971	RAB3GAP1	C>A	20368	283205	37.42	9.507e-10	0.9483
chr2:136643555	rs309125	-	C>T	15910	222234	33.05	8.991e-09	0.9475
chr6:170602429	rs17860704	DLL1	T>C	659	11059	32.08	1.478e-08	0.7963
chr4:38798648	rs5743618	TLR1	C>A	15603	219346	31.99	1.549e-08	0.9472
chr2:136407479	rs1446585	R3HDM1	A>G	17863	248535	31.98	1.558e-08	0.9502
chr5:33951116	rs35397	SLC45A2	T>G	5844	84264	31.95	1.584e-08	0.9231
chr12:53406838	rs6580924	EIF4B	G>A	10962	154551	31.89	1.634e-08	0.9408
chr2:135911422	Affx-17900027	RAB3GAP1	T>C	16095	224511	31.56	1.935e-08	0.9488
chr6:32212233	rs9267948	-	A>G	27804	362766	31.07	2.488e-08	1.046
chr2:3313043	rs73133173	EIPR1	A>C	835	13628	31.06	2.499e-08	0.819
chr2:136787402	rs6716536	-	C>T	17178	239000	30.92	2.69e-08	0.9504
chr5:177854281	rs114214071	COL23A1	A>G	1946	29656	30.63	3.121e-08	0.8769
chr6:396321	rs12203592	IRF4	C>T	14579	184336	42.87	5.864e-11	1.066
chr14:32253869	rs74043623	NUBPL	G>T	2470	29606	25.68	4.026e-07	1.114
chr6:29937924	rs1061535	-	C>T	12087	154067	24.41	7.799e-07	1.053
chr5:22121513	rs114465785	CDH12	C>T	1725	20345	23.63	1.165e-06	1.131
chr8:9742841	rs7828229	-	T>C	15440	198223	23.62	1.176e-06	1.048
chr5:66043640	rs4699892	MAST4	A>G	9610	121931	22.43	2.184e-06	1.056
chr1:210749312	rs12567982	HHAT	T>C	15945	205208	21.77	3.081e-06	1.045
chr6:32602396	rs9272226	HLA-DQA1	T>C	24269	314943	21.56	3.426e-06	1.04
chr6:29934454	rs3893259	-	G>A	8623	109253	21.53	3.479e-06	1.057
chr2:167262238	rs80098689	SCN7A	C>T	1519	17864	21.44	3.657e-06	1.133
chr6:29936135	rs4959036	-	T>G	8616	109204	21.22	4.091e-06	1.057
chr6:29955199	rs5025708	-	T>G	8103	102524	21.0	4.597e-06	1.058
chr8:9981854	rs17689674	MSRA	C>A	29360	382531	21.0	4.582e-06	1.038
chr6:29935469	rs9260761	-	C>T	8562	108585	20.74	5.254e-06	1.056
chr6:25918225	rs80215559	SLC17A2	T>C	5168	64527	20.56	5.789e-06	1.071
chr8:73426371	rs2017657	-	T>G	27876	363061	20.43	6.181e-06	1.038
chr6:29961580	rs9260973	-	G>A	8522	108096	20.35	6.442e-06	1.056
chr6:32259923	rs17422727	TSBP1	C>G	10278	142570	20.32	6.543e-06	0.951
chr6:30067681	rs7763159	-	G>A	8519	108048	20.3	6.634e-06	1.056
chr6:30002793	rs3121593	-	C>G	8695	110381	20.1	7.355e-06	1.055

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr5:66043640	rs4699892	MAST4	A>G	9610	3980	24.99	5.757e-07	1.107
chr17:63096005	Affx-14171459	-	A>G	22954	9889	24.77	6.451e-07	1.077
chr1:53699129	rs17192655	MAGOH	G>C	8809	3638	24.73	6.608e-07	1.111
chr3:189000113	rs73889165	TPRG1	T>A	1027	594	23.42	1.303e-06	0.7779
chr5:66198723	rs17282748	MAST4	A>G	9847	4104	22.34	2.286e-06	1.1
chr9:92107658	rs118015460	SEMA4D	G>A	951	319	21.71	3.177e-06	1.353
chr10:88768657	rs1745901	-	T>C	20581	9749	21.33	3.86e-06	0.933
chr6:170637477	rs77582099	FAM120B	G>C	1144	646	20.89	4.857e-06	0.797
chr9:16804167	rs10962612	BNC2	G>T	14924	7145	20.76	5.203e-06	0.9275
chr4:63160845	rs116214649	-	T>G	1397	500	20.73	5.28e-06	1.27
chr5:22121513	rs114465785	CDH12	C>T	1725	634	20.56	5.77e-06	1.237
chr9:38376976	rs6476691	-	T>C	11119	4680	20.5	5.964e-06	1.09
chr5:66148984	rs1007500	MAST4	T>C	9180	3831	20.21	6.944e-06	1.097
chr18:67415111	rs73970253	DOK6	T>G	1815	978	20.2	6.967e-06	0.8345
chr3:109367141	rs62281694	-	C>T	6263	2561	20.15	7.142e-06	1.117
chr9:38374313	rs963102	-	A>G	11717	4946	20.12	7.266e-06	1.087
chr19:34255590	rs116841290	CHST8	C>T	2268	1199	19.86	8.352e-06	0.8503
chr10:88732030	rs3858288	ADIRF	T>C	29094	13599	19.63	9.388e-06	0.9391
chr3:109396952	rs60944170	-	A>G	9308	3892	19.57	9.708e-06	1.095
chr17:79580457	rs17852306	NPLOC4	C>A	2818	1092	19.51	1.001e-05	1.174

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: C441	Skin of eyelid, including canthus	5/20
ICD: H023	Blepharochalasis	2/20
ICD: H405	Glaucoma secondary to other eye disorders	2/20
ICD: L031	Cellulitis of other parts of limb	4/20
ICD: N979	Female infertility, unspecified	2/20
ICD: Y838	Other surgical procedures	2/20

ID	Name	Top Correlation
ICD-10: B009	Herpesviral infection, unspecified	0/20
ICD-10: C671	Dome of bladder	0/20
ICD-10: F801	Expressive language disorder	0/20
ICD-10: G540	Brachial plexus disorders	0/20
ICD-10: G902	Horner's syndrome	0/20
ICD-10: H001	Chalazion	0/20
ICD-10: H010	Blepharitis	0/20
ICD-10: H018	Other specified inflammation of eyelid	0/20
ICD-10: H020	Entropion and trichiasis of eyelid	0/20
ICD-10: H021	Ectropion of eyelid	0/20
ICD-10: H024	Ptosis of eyelid	0/20
ICD-10: H026	Xanthelasma of eyelid	0/20
ICD-10: H028	Other specified disorders of eyelid	0/20
ICD-10: H029	Disorder of eyelid, unspecified	0/20
ICD-10: H050	Acute inflammation of orbit	0/20
ICD-10: H062	Dysthyroid exophthalmos	0/20
ICD-10: H113	Conjunctival haemorrhage	0/20
ICD-10: H119	Disorder of conjunctiva, unspecified	0/20
ICD-10: H55	Nystagmus and other irregular eye movements	0/20
ICD-10: H601	Cellulitis of external ear	0/20
ICD-10: I071	Tricuspid insufficiency	0/20
ICD-10: K130	Diseases of lips	0/20
ICD-10: L030	Cellulitis of finger and toe	0/20
ICD-10: L033	Cellulitis of trunk	0/20
ICD-10: L038	Cellulitis of other sites	0/20
ICD-10: L039	Cellulitis, unspecified	0/20
ICD-10: L719	Rosacea, unspecified	0/20
ICD-10: N62	Hypertrophy of breast	0/20
ICD-10: N86	Erosion and ectropion of cervix uteri	0/20
ICD-10: N930	Postcoital and contact bleeding	0/20
ICD-10: O820	Delivery by elective Caesarean section	0/20
ICD-10: Q668	Other congenital deformities of feet	0/20
ICD-10: R234	Changes in skin texture	0/20
ICD-10: R451	Restlessness and agitation	0/20
ICD-10: R600	Localised oedema	0/20
ICD-10: Y450	Opioids and related analgesics	0/20
ICD-10: Y834	Other reconstructive surgery	0/20

Abnormal eyelid morphology

0000492

Normal Case/Contol ⓘ

Sibling Case/Control ⓘ

Links

Statistics

Phenotype Definition

Top SNP Information Show Normal Table Show Sibling SNP

Associated Diseases ⓘ Shared SNP diseases No shared SNP diseases

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Top SNP Information

Associated Diseases ^ⓘ