D51.9

Case	Control
225	459980

Case

Control

225

459980

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr2:152848504	rs4146377	CACNB4	C>T	32	22838	35.87	2.105e-09	2.848
chr3:39671835	rs73060568	-	G>A	20	12008	30.89	2.738e-08	3.308
chr17:9845151	rs3786112	GAS7	C>T	32	25241	28.18	1.107e-07	2.549
chr3:133881331	rs75549128	RYK	A>G	29	22523	26.42	2.75e-07	2.58
chr16:19454954	rs76042989	TMC5	G>T	24	17330	25.65	4.093e-07	2.762
chr4:188970959	rs61385796	-	C>T	20	13335	25.25	5.025e-07	2.981
chr3:133883502	rs79046206	RYK	A>G	29	23106	25.02	5.663e-07	2.52
chr6:116784850	rs41289932	Z84488.2	C>G	59	61472	24.87	6.143e-07	1.97
chr11:79030212	rs76814085	TENM4	G>A	16	9655	24.24	8.526e-07	3.26
chr6:166261974	rs79336318	PDE10A	C>T	26	20286	23.4	1.316e-06	2.559
chr3:171091467	rs12497082	TNIK	T>A	103	128371	22.98	1.64e-06	1.688
chr5:10748462	rs267943	DAP	T>C	38	34897	22.86	1.74e-06	2.196
chr13:86347240	rs34798890	-	C>T	17	11072	22.76	1.838e-06	3.061
chr2:28792335	rs11127170	PLB1	G>C	169	240243	22.72	1.875e-06	1.564
chr6:116803829	rs12525282	-	T>C	57	60656	22.47	2.136e-06	1.926
chr10:17186447	rs56394211	TRDMT1	C>T	106	299614	22.33	2.296e-06	0.5994
chr2:31564550	rs45573441	XDH	C>T	17	11150	22.21	2.444e-06	3.024
chr5:76712723	rs55689454	AC022414.1	C>T	79	93316	21.98	2.759e-06	1.763
chr18:57713755	rs17781900	-	A>G	50	51632	21.73	3.133e-06	1.978
chr3:171087469	rs3796295	TNIK	A>G	181	260510	21.6	3.355e-06	1.535

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0004905	Low levels of vitamin A	3/20
HP: 0008372	Abnormality of vitamin A metabolism	3/20

Name

Top Correlation

HP: 0004905

Low levels of vitamin A

3/20

HP: 0008372

Abnormality of vitamin A metabolism

3/20

ID	Name	Top Correlation
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000152	Abnormality of head or neck	0/20
HP: 0000153	Abnormality of the mouth	0/20
HP: 0000157	Abnormality of the tongue	0/20
HP: 0000163	Abnormal oral cavity morphology	0/20
HP: 0000206	Glossitis	0/20
HP: 0000234	Abnormality of the head	0/20
HP: 0000271	Abnormality of the face	0/20
HP: 0000951	Abnormality of the skin	0/20
HP: 0000953	Hyperpigmentation of the skin	0/20
HP: 0001000	Abnormality of skin pigmentation	0/20
HP: 0001574	Abnormality of the integument	0/20
HP: 0001871	Abnormality of blood and blood-forming tissues	0/20
HP: 0001877	Abnormal erythrocyte morphology	0/20
HP: 0001889	Megaloblastic anemia	0/20
HP: 0001891	Iron deficiency anemia	0/20
HP: 0001903	Anemia	0/20
HP: 0001931	Hypochromic anemia	0/20
HP: 0001939	Abnormality of metabolism/homeostasis	0/20
HP: 0001972	Macrocytic anemia	0/20
HP: 0002046	Heat intolerance	0/20
HP: 0004340	Abnormality of vitamin B metabolism	0/20
HP: 0004341	Abnormality of vitamin B12 metabolism	0/20
HP: 0004364	Abnormal circulating nitrogen compound concentration	0/20
HP: 0004370	Abnormality of temperature regulation	0/20
HP: 0007440	Generalized hyperpigmentation	0/20
HP: 0010972	Anemia of inadequate production	0/20
HP: 0011121	Abnormality of skin morphology	0/20
HP: 0012130	Abnormal erythroid lineage cell morphology	0/20
HP: 0012337	Abnormal homeostasis	0/20
HP: 0020047	Abnormal myeloid cell morphology	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0030809	Abnormal tongue morphology	0/20
HP: 0031816	Abnormal oral morphology	0/20
HP: 0032180	Abnormal circulating metabolite concentration	0/20
HP: 0032245	Abnormal metabolism	0/20
HP: 0040126	Abnormal vitamin B12 level	0/20
HP: 0100502	Vitamin B12 deficiency	0/20
HP: 0100508	Abnormality of vitamin metabolism	0/20

Name

Top Correlation

HP: 0000118

Phenotypic abnormality

0/20

HP: 0000152

Abnormality of head or neck

0/20

HP: 0000153

Abnormality of the mouth

0/20

HP: 0000157