M50.0

Case	Control
527	459678

Case

Control

527

459678

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr3:48925045	rs75218974	SLC25A20	G>T	67	29374	33.97	5.61e-09	2.054
chr3:48732846	rs61740999	IP6K2	G>A	66	30097	30.04	4.239e-08	1.98
chr3:49740450	rs76100153	RNF123	C>T	64	29030	29.36	6.021e-08	1.984
chr3:49599902	rs80031977	BSN	T>C	64	29172	28.89	7.655e-08	1.973
chr12:29950878	rs302359	-	T>C	50	21446	26.88	2.168e-07	2.084
chr3:133866774	rs114584570	RYK	T>C	49	21223	25.69	4e-07	2.066
chr9:73068700	rs74864917	-	G>A	46	19963	23.81	1.064e-06	2.054
chr9:114830718	rs75359388	SUSD1	A>G	33	12891	23.38	1.33e-06	2.297
chr1:211776439	rs4951536	-	C>A	473	346918	22.7	1.897e-06	1.334
chr12:25167733	rs73076067	LRMP	C>T	47	21010	22.39	2.22e-06	1.998
chr2:106962408	rs57346020	-	G>C	60	29292	21.59	3.381e-06	1.837
chr6:1238459	rs76459144	-	T>C	48	21908	21.48	3.568e-06	1.958
chr9:12964777	rs72704590	-	G>T	48	21942	21.37	3.781e-06	1.955
chr9:73027076	rs75136270	KLF9	G>A	63	31288	21.19	4.167e-06	1.802
chr22:40049185	rs8140214	CACNA1I	G>T	63	31480	21.03	4.528e-06	1.798
chr9:710966	rs7860464	KANK1	G>A	37	15560	20.96	4.683e-06	2.114
chr10:118173774	rs61864829	-	A>G	55	26349	20.94	4.75e-06	1.865
chr16:58795982	rs113283626	-	A>G	35	14425	20.82	5.058e-06	2.15
chr11:126421415	rs59826922	KIRREL3	G>A	53	25226	20.74	5.273e-06	1.88
chr2:234394487	rs1048603	USP40	G>A	423	307351	20.71	5.33e-06	1.323

Associated Phenotypes ^ⓘ

Name

Top Correlation

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: 0000366	Abnormality of the nose	0/20
HP: 0000600	Abnormality of the pharynx	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0000925	Abnormality of the vertebral column	0/20
HP: 0001367	Abnormal joint morphology	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001739	Abnormality of the nasopharynx	0/20
HP: 0002012	Abnormality of the abdominal organs	0/20
HP: 0002086	Abnormality of the respiratory system	0/20
HP: 0002088	Abnormal lung morphology	0/20
HP: 0002205	Recurrent respiratory infections	0/20
HP: 0002597	Abnormality of the vasculature	0/20
HP: 0002607	Bowel incontinence	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0002719	Recurrent infections	0/20
HP: 0002788	Recurrent upper respiratory tract infections	0/20
HP: 0003307	Hyperlordosis	0/20
HP: 0003418	Back pain	0/20
HP: 0009121	Abnormal axial skeleton morphology	0/20
HP: 0010674	Abnormality of the curvature of the vertebral column	0/20
HP: 0010885	Avascular necrosis	0/20
HP: 0010978	Abnormality of immune system physiology	0/20
HP: 0011110	Tonsillitis	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0011843	Abnormality of skeletal physiology	0/20
HP: 0011868	Sciatica	0/20
HP: 0011947	Respiratory tract infection	0/20
HP: 0012252	Abnormal respiratory system morphology	0/20
HP: 0012531	Pain	0/20
HP: 0012700	Abnormal large intestine physiology	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025032	Abnormality of digestive system physiology	0/20
HP: 0025142	Constitutional symptom	0/20
HP: 0025439	Pharyngitis	0/20
HP: 0031058	Impairment of activities of daily living	0/20
HP: 0031064	Impaired continence	0/20
HP: 0032101	Unusual infection	0/20
HP: 0040188	Osteochondrosis	0/20
HP: 0100323	Juvenile aseptic necrosis	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: 0000234

Abnormality of the head

0/20

HP: 0000271