M54.94

Case	Control
121	460084

Case

Control

121

460084

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr16:6672021	rs117698829	RBFOX1	C>T	19	17992	43.77	3.69e-11	4.256
chr3:161281181	rs116096232	-	C>T	19	21411	32.31	1.313e-08	3.558
chr3:67179411	rs116631760	-	G>T	12	11146	28.44	9.662e-08	4.254
chr6:9051633	rs752086	-	A>C	15	16094	27.85	1.311e-07	3.704
chr11:131617859	rs117722620	NTM	G>A	25	35506	27.36	1.689e-07	2.865
chr22:36085208	rs62233611	-	G>A	11	10179	26.16	3.14e-07	4.253
chr6:37849715	rs80066706	ZFAND3	A>G	13	13337	26.11	3.219e-07	3.859
chr5:145074284	rs13175943	PRELID2	A>C	26	38594	25.84	3.714e-07	2.743
chr14:102900956	rs118141823	TECPR2	C>T	17	20448	25.66	4.072e-07	3.317
chr1:39009790	rs77046175	-	A>G	26	38754	25.56	4.288e-07	2.728
chr14:102895699	rs117706929	TECPR2	G>A	17	20550	25.42	4.612e-07	3.3
chr1:76171090	rs6702012	-	T>A	15	17161	24.8	6.375e-07	3.469
chr12:106214612	rs76736341	-	C>T	21	28987	24.62	6.998e-07	2.938
chr6:38088606	rs77881874	ZFAND3	T>C	18	23004	24.13	9.007e-07	3.123
chr17:77978778	rs72848425	TBC1D16	G>T	16	19782	22.93	1.68e-06	3.219
chr20:31719545	rs117370908	-	C>G	20	27728	22.86	1.739e-06	2.896
chr10:127795346	rs117333050	ADAM12	C>T	23	34126	22.82	1.776e-06	2.724
chr11:106541195	rs17105927	-	T>C	39	72460	22.58	2.013e-06	2.236
chr11:103501476	rs78486571	-	T>C	13	14461	22.58	2.02e-06	3.551
chr4:165339694	rs72690078	-	G>A	17	21921	22.45	2.156e-06	3.092

Associated Phenotypes ^ⓘ

Name

Top Correlation

ID	Name	Top Correlation
HP: 0000008	Abnormal morphology of female internal genitalia	0/20
HP: 0000009	Functional abnormality of the bladder	0/20
HP: 0000014	Abnormality of the bladder	0/20
HP: 0000078	Abnormality of the genital system	0/20
HP: 0000079	Abnormality of the urinary system	0/20
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000119	Abnormality of the genitourinary system	0/20
HP: 0000130	Abnormality of the uterus	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: 0000782	Abnormality of the scapula	0/20
HP: 0000812	Abnormal internal genitalia	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0000925	Abnormality of the vertebral column	0/20
HP: 0001288	Gait disturbance	0/20
HP: 0001435	Abnormality of the shoulder girdle musculature	0/20
HP: 0001446	Abnormality of the musculature of the upper limbs	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001627	Abnormal heart morphology	0/20
HP: 0001637	Abnormal myocardium morphology	0/20
HP: 0001638	Cardiomyopathy	0/20
HP: 0001639	Hypertrophic cardiomyopathy	0/20
HP: 0001939	Abnormality of metabolism/homeostasis	0/20
HP: 0002011	Morphological central nervous system abnormality	0/20
HP: 0002143	Abnormality of the spinal cord	0/20
HP: 0002515	Waddling gait	0/20
HP: 0002664	Neoplasm	0/20
HP: 0002813	Abnormality of limb bone morphology	0/20
HP: 0002817	Abnormality of the upper limb	0/20
HP: 0002839	Urinary bladder sphincter dysfunction	0/20
HP: 0003011	Abnormality of the musculature	0/20
HP: 0003109	Hyperphosphaturia	0/20
HP: 0003110	Abnormality of urine homeostasis	0/20
HP: 0003468	Abnormal vertebral morphology	0/20
HP: 0003691	Scapular winging	0/20
HP: 0004375	Neoplasm of the nervous system	0/20
HP: 0009121	Abnormal axial skeleton morphology	0/20
HP: 0009127	Abnormality of the musculature of the limbs	0/20
HP: 0010302	Spinal cord tumor	0/20
HP: 0010460	Abnormality of the female genitalia	0/20
HP: 0010936	Abnormality of the lower urinary tract	0/20
HP: 0011277	Abnormality of the urinary system physiology	0/20
HP: 0011792	Neoplasm by histology	0/20
HP: 0011793	Neoplasm by anatomical site	0/20
HP: 0011805	Abnormal skeletal muscle morphology	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0011844	Abnormal appendicular skeleton morphology	0/20
HP: 0012243	Abnormal reproductive system morphology	0/20
HP: 0012591	Abnormal urinary electrolyte concentration	0/20
HP: 0012599	Abnormal urine phosphate concentration	0/20
HP: 0012638	Abnormal nervous system physiology	0/20
HP: 0012639	Abnormal nervous system morphology	0/20
HP: 0012888	Abnormality of the uterine cervix	0/20
HP: 0030041	Schmorl's node	0/20
HP: 0030160	Cervicitis	0/20
HP: 0030448	Soft tissue sarcoma	0/20
HP: 0030680	Abnormality of cardiovascular system morphology	0/20
HP: 0031992	Apical hypertrophic cardiomyopathy	0/20
HP: 0040064	Abnormality of limbs	0/20
HP: 0040068	Abnormality of limb bone	0/20
HP: 0040070	Abnormal upper limb bone morphology	0/20
HP: 0100006	Neoplasm of the central nervous system	0/20
HP: 0100022	Abnormality of movement	0/20
HP: 0100242	Sarcoma	0/20
HP: 0100697	Neurofibrosarcoma	0/20

Name

Top Correlation

HP: 0000008

Abnormal morphology of female internal genitalia

0/20

HP: 0000009

Functional abnormality of the bladder

0/20

HP: 0000014

Abnormality of the bladder

0/20

HP: 0000078