R23.4

Case	Control
146	460059

Case

Control

146

460059

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr15:77117549	rs117381482	SCAPER	G>A	34	45867	29.31	6.176e-08	2.586
chr15:76994111	rs117552750	SCAPER	T>C	34	46011	29.14	6.722e-08	2.58
chr15:77222517	rs116889648	-	C>T	34	46468	28.54	9.186e-08	2.556
chr15:76734232	rs117035148	SCAPER	T>C	32	43959	28.35	1.013e-07	2.625
chr1:69139832	rs111507191	-	C>A	22	25772	25.59	4.225e-07	2.913
chr5:8409617	rs114899423	-	G>T	21	24191	25.33	4.825e-07	2.96
chr5:33421592	rs115009272	-	T>C	21	24267	25.16	5.28e-07	2.95
chr3:121415370	rs61730221	GOLGB1	T>C	16	16112	24.66	6.85e-07	3.33
chr8:18868593	rs78666306	PSD3	T>C	13	11976	24.28	8.337e-07	3.685
chr1:36815623	rs115582960	STK40	C>T	15	14809	24.22	8.59e-07	3.408
chr12:100476159	rs79045757	UHRF1BP1L	T>C	18	19879	23.69	1.131e-06	3.077
chr7:3713782	rs75793132	SDK1	T>G	19	21743	23.16	1.489e-06	2.965
chr15:93033907	rs4777994	-	T>C	13	12283	22.99	1.627e-06	3.571
chr22:26471046	rs16981327	-	C>T	28	38462	22.97	1.643e-06	2.507
chr17:64298049	rs80115367	-	G>A	19	21928	22.76	1.838e-06	2.94
chr2:173009154	rs115243607	-	C>T	19	22537	21.49	3.549e-06	2.859
chr7:88660993	rs80219644	ZNF804B	A>G	19	22738	21.3	3.918e-06	2.847
chr8:65936636	rs117630078	-	T>C	14	14403	21.2	4.134e-06	3.286
chr10:129078656	rs79813312	DOCK1	G>A	15	15932	21.13	4.288e-06	3.169
chr19:584051	rs73918145	-	A>G	50	88814	21.07	4.431e-06	2.009

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0032035	Lower eyelid laxity	15/20
HP: 0100578	Lipoatrophy	3/20

Name

Top Correlation

15/20

3/20

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: 0000315	Abnormality of the orbital region	0/20
HP: 0000492	Abnormal eyelid morphology	0/20
HP: 0000951	Abnormality of the skin	0/20
HP: 0000987	Atypical scarring of skin	0/20
HP: 0001000	Abnormality of skin pigmentation	0/20
HP: 0001010	Hypopigmentation of the skin	0/20
HP: 0001075	Atrophic scars	0/20
HP: 0001574	Abnormality of the integument	0/20
HP: 0002926	Abnormality of thyroid physiology	0/20
HP: 0003549	Abnormality of connective tissue	0/20
HP: 0004334	Dermal atrophy	0/20
HP: 0008065	Aplasia/Hypoplasia of the skin	0/20
HP: 0009124	Abnormal adipose tissue morphology	0/20
HP: 0009125	Lipodystrophy	0/20
HP: 0010750	Dermatochalasis	0/20
HP: 0011121	Abnormality of skin morphology	0/20
HP: 0011355	Localized skin lesion	0/20
HP: 0011787	Central hypothyroidism	0/20
HP: 0030669	Abnormal ocular adnexa morphology	0/20
HP: 0030802	Lower eyelid retraction	0/20
HP: 0031072	Abnormal endocrine physiology	0/20
HP: 0031879	Abnormal eyelid physiology	0/20
HP: 0031880	Eyelid laxity	0/20
HP: 0032039	Abnormality of the ocular adnexa	0/20
HP: 0032040	Abnormal ocular adnexa physiology	0/20
HP: 0100699	Scarring	0/20
HP: 0500043	Eyelid retraction	0/20

Name

Top Correlation

0/20

0/20

0/20