J34.3

Case	Control
2050	458155

Case

Control

2050

458155

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr6:27586181	rs9393829	-	G>A	85	10923	25.13	5.355e-07	1.724
chr1:91554973	rs113777875	-	C>T	78	9836	24.7	6.691e-07	1.755
chr4:137201813	rs17048572	-	T>C	99	34891	23.41	1.309e-06	0.6139
chr6:27550712	rs9379989	-	A>G	86	11379	22.62	1.969e-06	1.672
chr11:60547604	rs2089343	-	C>A	765	143899	22.17	2.491e-06	1.206
chr6:27586122	rs9368516	-	T>C	87	11620	22.02	2.703e-06	1.656
chr4:149523158	rs12643054	-	G>A	1809	431871	21.7	3.182e-06	0.8668
chr5:26404160	rs34641818	-	T>C	212	34082	21.34	3.849e-06	1.384
chr7:119000478	rs80321377	-	T>C	119	17218	21.23	4.07e-06	1.532
chr14:85426614	rs113969138	-	G>A	122	17762	21.02	4.557e-06	1.521
chr6:27516769	rs9357041	-	C>A	84	11304	20.71	5.354e-06	1.645
chr17:5894060	rs36087495	AC007846.2	A>G	319	54722	20.69	5.388e-06	1.303
chr2:144352788	rs80251444	ARHGAP15	G>A	317	88829	20.66	5.483e-06	0.7674
chr1:247868113	rs880143	-	T>C	1076	266180	20.6	5.67e-06	0.8527
chr1:79813493	rs116768338	-	C>T	180	28713	19.13	1.224e-05	1.394
chr3:2644699	rs2619564	CNTN4	A>G	514	134747	18.6	1.61e-05	0.8167
chr7:118691595	rs75313075	-	A>G	166	26312	18.29	1.898e-05	1.402
chr20:15274419	rs11087127	MACROD2	A>G	884	170659	18.16	2.035e-05	1.174
chr9:138581012	rs62579818	-	T>C	512	94018	18.09	2.112e-05	1.221
chr3:156877707	rs9814142	CCNL1	A>T	227	37812	18.04	2.167e-05	1.335

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0000158	Macroglossia	10/20
HP: 0000403	Recurrent otitis media	1/20
HP: 0000458	Anosmia	8/20
HP: 0003712	Skeletal muscle hypertrophy	3/20
HP: 0004408	Abnormality of the sense of smell	4/20

Name

Top Correlation

HP: 0000158

Macroglossia

10/20

HP: 0000403

Recurrent otitis media

1/20

HP: 0000458

Anosmia

8/20

HP: 0003712

Skeletal muscle hypertrophy

3/20

HP: 0004408

Abnormality of the sense of smell

4/20

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: 0000234	Abnormality of the head	0/20
HP: 0000271	Abnormality of the face	0/20
HP: 0000366	Abnormality of the nose	0/20
HP: 0000370	Abnormality of the middle ear	0/20
HP: 0000388	Otitis media	0/20
HP: 0000419	Abnormality of the nasal septum	0/20
HP: 0000598	Abnormality of the ear	0/20
HP: 0000600	Abnormality of the pharynx	0/20
HP: 0000707	Abnormality of the nervous system	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001742	Nasal obstruction	0/20
HP: 0002597	Abnormality of the vasculature	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0002719	Recurrent infections	0/20
HP: 0003011	Abnormality of the musculature	0/20
HP: 0004411	Deviated nasal septum	0/20
HP: 0010937	Abnormality of the nasal skeleton	0/20
HP: 0010978	Abnormality of immune system physiology	0/20
HP: 0011805	Abnormal skeletal muscle morphology	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: 0025031	Abnormality of the digestive system	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0030236	Abnormality of muscle size	0/20
HP: 0030809	Abnormal tongue morphology	0/20
HP: 0030812	Enlarged tonsils	0/20
HP: 0031703	Abnormal ear morphology	0/20
HP: 0031816	Abnormal oral morphology	0/20
HP: 0032101	Unusual infection	0/20
HP: 0100763	Abnormality of the lymphatic system	0/20
HP: 0100765	Abnormality of the tonsils	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