N64.8

Case	Control
406	459799

Case

Control

406

459799

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr14:55581810	rs7156997	-	G>A	57	29165	37.34	9.924e-10	2.26
chr8:14410807	rs58744692	SGCZ	G>C	97	62147	33.41	7.466e-09	1.848
chr13:20758924	rs76298075	-	C>T	51	27823	27.64	1.463e-07	2.1
chr8:14569684	rs78322704	SGCZ	T>C	70	42585	27.62	1.478e-07	1.906
chr2:110015309	rs10181644	SH3RF3	T>C	31	14415	25.33	4.842e-07	2.439
chr11:106871106	rs10502081	GUCY1A2	T>G	41	21082	24.93	5.949e-07	2.183
chr3:67155841	rs77383279	-	T>C	35	17631	23.51	1.241e-06	2.258
chr6:35324741	rs7746988	PPARD	T>C	40	21209	23.34	1.356e-06	2.147
chr14:20872881	rs1760898	TEP1	G>T	263	225520	23.01	1.608e-06	1.422
chr17:18127592	rs75348885	-	G>A	37	19253	22.83	1.773e-06	2.188
chr2:54387859	rs59835321	ACYP2	T>C	105	74958	22.45	2.153e-06	1.63
chr22:20103263	rs9605067	TRMT2A	G>T	59	36040	22.28	2.36e-06	1.871
chr9:137570132	rs73665732	COL5A1	C>T	25	11278	22.17	2.496e-06	2.518
chr15:92258977	rs12438988	-	G>C	26	11884	22.02	2.694e-06	2.47
chr16:84706161	rs28582210	-	A>C	292	256699	22.0	2.725e-06	1.398
chr5:137862100	rs113381014	ETF1	C>T	27	12589	21.77	3.081e-06	2.42
chr3:112185025	rs9288952	BTLA	A>G	82	55526	21.75	3.105e-06	1.707
chr18:4384905	rs661646	DLGAP1	G>A	94	66303	21.2	4.129e-06	1.645
chr3:16473541	rs55798912	RFTN1	G>A	45	25665	21.16	4.219e-06	1.995
chr14:55518903	rs61975399	MAPK1IP1L	C>T	57	35124	21.09	4.384e-06	1.858

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0000771	Gynecomastia	4/20
HP: 0000872	Hashimoto thyroiditis	1/20
HP: 0008226	Androgen insufficiency	9/20
HP: 0010543	Opsoclonus	8/20
HP: 0032104	Saccadic oscillation	3/20

Name

Top Correlation

HP: 0000771

Gynecomastia

4/20

HP: 0000872

Hashimoto thyroiditis

1/20

HP: 0008226

Androgen insufficiency

9/20

8/20

3/20

ID	Name	Top Correlation
HP: 0000008	Abnormal morphology of female internal genitalia	0/20
HP: 0000078	Abnormality of the genital system	0/20
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000119	Abnormality of the genitourinary system	0/20
HP: 0000142	Abnormal vagina morphology	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: 0000496	Abnormality of eye movement	0/20
HP: 0000570	Abnormal saccadic eye movements	0/20
HP: 0000707	Abnormality of the nervous system	0/20
HP: 0000708	Behavioral abnormality	0/20
HP: 0000765	Abnormality of the thorax	0/20
HP: 0000769	Abnormality of the breast	0/20
HP: 0000812	Abnormal internal genitalia	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0002664	Neoplasm	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0002960	Autoimmunity	0/20
HP: 0003002	Breast carcinoma	0/20
HP: 0003187	Breast hypoplasia	0/20
HP: 0003549	Abnormality of connective tissue	0/20
HP: 0008373	Puberty and gonadal disorders	0/20
HP: 0009121	Abnormal axial skeleton morphology	0/20
HP: 0010311	Aplasia/Hypoplasia of the breasts	0/20
HP: 0010460	Abnormality of the female genitalia	0/20
HP: 0010978	Abnormality of immune system physiology	0/20
HP: 0011772	Abnormality of thyroid morphology	0/20
HP: 0011793	Neoplasm by anatomical site	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0012243	Abnormal reproductive system morphology	0/20
HP: 0012373	Abnormal eye physiology	0/20
HP: 0012547	Abnormal involuntary eye movements	0/20
HP: 0012638	Abnormal nervous system physiology	0/20
HP: 0012647	Abnormal inflammatory response	0/20
HP: 0012649	Increased inflammatory response	0/20
HP: 0025230	Tendonitis	0/20
HP: 0031071	Abnormal endocrine morphology	0/20
HP: 0031088	Vaginal dryness	0/20
HP: 0031093	Abnormal breast morphology	0/20
HP: 0100013	Neoplasm of the breast	0/20
HP: 0100261	Abnormal tendon morphology	0/20
HP: 0100646	Thyroiditis	0/20

Name

Top Correlation

HP: 0000008

Abnormal morphology of female internal genitalia

0/20

HP: 0000078

Abnormality of the genital system

0/20

HP: 0000118

Phenotypic abnormality

0/20

HP: 0000119