R52.1

Case	Control
922	459283

Case

Control

922

459283

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr9:139389432	rs3124998	NOTCH1	C>T	89	23860	35.99	1.981e-09	1.899
chr9:139292275	rs9411288	SNAPC4	C>T	92	26582	28.46	9.562e-08	1.756
chr9:139262205	rs3124993	CARD9	C>G	78	22787	23.2	1.463e-06	1.734
chr6:147680176	rs117319597	STXBP5	C>T	46	11700	21.45	3.634e-06	1.972
chr17:26694036	rs2227742	AC002094.3	T>A	65	18482	21.21	4.121e-06	1.776
chr1:77072458	rs2647389	ST6GALNAC3	T>C	357	142078	20.85	4.959e-06	1.306
chr10:124104793	rs7095410	-	A>G	719	311091	19.88	8.242e-06	1.232
chr4:146329822	rs62343487	-	C>T	141	48588	19.77	8.732e-06	1.472
chr6:124877461	rs74522704	NKAIN2	T>C	66	19212	19.64	9.327e-06	1.732
chr21:44161369	rs77508366	PDE9A	T>G	77	23359	19.34	1.092e-05	1.66
chr10:129853659	rs74159153	PTPRE	G>A	49	13133	19.27	1.134e-05	1.87
chr21:40779232	rs2837009	GET1	T>C	352	214775	18.75	1.487e-05	0.7753
chr1:218729686	rs75459190	-	T>A	75	22778	18.75	1.493e-05	1.657
chr10:10414503	rs12218259	-	T>G	792	440682	18.63	1.584e-05	0.8198
chr19:33925945	rs117699443	PEPD	G>A	52	14408	18.55	1.658e-05	1.818
chr5:171775483	rs78807727	SH3PXD2B	T>C	54	15079	18.53	1.673e-05	1.798
chr2:42082951	rs35527242	-	C>T	307	121008	18.48	1.718e-05	1.306
chr17:75883806	rs62078511	-	C>T	464	192774	18.27	1.916e-05	1.255
chr5:15979031	rs1604475	-	C>T	117	39419	18.25	1.933e-05	1.499
chr3:174667446	rs6801807	NAALADL2	G>A	536	226465	18.25	1.938e-05	1.242

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0003401	Paresthesia	1/20
HP: 0007459	Generalized anhidrosis	11/20
HP: 0031844	Euphoria	4/20
HP: 0100963	Hyperesthesia	7/20

Name

Top Correlation

HP: 0003401

Paresthesia

1/20

HP: 0007459

Generalized anhidrosis

11/20

4/20

7/20

ID	Name	Top Correlation
HP: 0000032	Abnormality of male external genitalia	0/20
HP: 0000045	Abnormality of the scrotum	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: 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: 0000707	Abnormality of the nervous system	0/20
HP: 0000708	Behavioral abnormality	0/20
HP: 0000759	Abnormal peripheral nervous system morphology	0/20
HP: 0000763	Sensory neuropathy	0/20
HP: 0000811	Abnormal external genitalia	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0001574	Abnormality of the integument	0/20
HP: 0002011	Morphological central nervous system abnormality	0/20
HP: 0002143	Abnormality of the spinal cord	0/20
HP: 0002257	Chronic rhinitis	0/20
HP: 0002664	Neoplasm	0/20
HP: 0004375	Neoplasm of the nervous system	0/20
HP: 0009763	Limb pain	0/20
HP: 0009830	Peripheral neuropathy	0/20
HP: 0010302	Spinal cord tumor	0/20
HP: 0010461	Abnormality of the male genitalia	0/20
HP: 0011793	Neoplasm by anatomical site	0/20
HP: 0011843	Abnormality of skeletal physiology	0/20
HP: 0012181	Entrapment neuropathy	0/20
HP: 0012243	Abnormal reproductive system morphology	0/20
HP: 0012384	Rhinitis	0/20
HP: 0012514	Lower limb pain	0/20
HP: 0012531	Pain	0/20
HP: 0012532	Chronic pain	0/20
HP: 0012638	Abnormal nervous system physiology	0/20
HP: 0012639	Abnormal nervous system morphology	0/20
HP: 0025142	Constitutional symptom	0/20
HP: 0025276	Abnormality of skin adnexa physiology	0/20
HP: 0030155	Scrotal pain	0/20
HP: 0045010	Abnormality of peripheral nerves	0/20
HP: 0100006	Neoplasm of the central nervous system	0/20
HP: 0100851	Abnormal emotion/affect behavior	0/20

Name

Top Correlation

HP: 0000032

Abnormality of male external genitalia

0/20

HP: 0000045

Abnormality of the scrotum

0/20

HP: 0000078

Abnormality of the genital system

0/20

HP: 0000118