R70.0

Case	Control
100	460105

Case

Control

100

460105

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr3:86597140	rs116329890	-	T>G	14	15369	31.42	2.08e-08	4.155
chr3:36776413	rs9882438	DCLK3	G>A	17	22522	27.68	1.434e-07	3.475
chr20:39456099	rs11700116	-	A>G	37	72926	26.4	2.77e-07	2.446
chr2:174114139	rs10497399	MAP3K20	C>T	39	79792	25.9	3.592e-07	2.387
chr17:39661366	rs760134	KRT13	G>C	28	49610	25.32	4.847e-07	2.658
chr6:32124424	rs10947233	PPT2	G>T	30	55675	24.92	5.989e-07	2.572
chr21:45716135	rs28408186	AIRE	G>A	14	17638	24.78	6.426e-07	3.613
chr8:11084251	rs117332219	-	G>A	10	10356	24.58	7.132e-07	4.345
chr15:84444530	rs117633634	ADAMTSL3	C>G	16	22029	24.14	8.974e-07	3.325
chr11:10019879	rs16907355	SBF2	G>A	33	64531	23.9	1.014e-06	2.44
chr5:20633452	rs11739633	-	T>A	18	26606	23.78	1.082e-06	3.116
chr1:1155757	rs4970422	SDF4	C>T	24	41389	23.43	1.294e-06	2.729
chr6:32147157	rs41268928	RNF5	G>C	30	56791	23.39	1.323e-06	2.501
chr3:124693299	rs4679198	HEG1	T>G	126	393323	23.38	1.332e-06	1.897
chr8:109291112	rs78052592	EIF3E	T>C	11	12589	23.35	1.348e-06	3.985
chr5:20692763	rs114116970	-	A>G	18	26856	23.29	1.397e-06	3.083
chr6:44177011	rs76120761	-	A>G	12	14402	23.16	1.493e-06	3.776
chr8:75006796	rs77101310	-	A>G	19	29256	23.09	1.55e-06	2.995
chr10:133056128	rs2918091	TCERG1L	A>G	52	122268	23.03	1.597e-06	2.101
chr6:133773294	rs79709397	EYA4	A>G	13	16463	22.73	1.865e-06	3.578

ID	Name	Top Correlation
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0000940	Abnormal diaphysis morphology	0/20
HP: 0000951	Abnormality of the skin	0/20
HP: 0001574	Abnormality of the integument	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001939	Abnormality of metabolism/homeostasis	0/20
HP: 0002086	Abnormality of the respiratory system	0/20
HP: 0002597	Abnormality of the vasculature	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0002795	Functional respiratory abnormality	0/20
HP: 0002813	Abnormality of limb bone morphology	0/20
HP: 0003565	Elevated erythrocyte sedimentation rate	0/20
HP: 0004364	Abnormal circulating nitrogen compound concentration	0/20
HP: 0005019	Diaphyseal thickening	0/20
HP: 0005368	Abnormality of humoral immunity	0/20
HP: 0005372	Abnormality of B cell physiology	0/20
HP: 0006504	obsolete Anomaly of the limb diaphyses morphology	0/20
HP: 0010701	Abnormal immunoglobulin level	0/20
HP: 0010702	Increased antibody level in blood	0/20
HP: 0010876	Abnormal circulating protein level	0/20
HP: 0010978	Abnormality of immune system physiology	0/20
HP: 0011004	Abnormal systemic arterial morphology	0/20
HP: 0011017	Abnormal cellular physiology	0/20
HP: 0011025	Abnormal cardiovascular system physiology	0/20
HP: 0011121	Abnormality of skin morphology	0/20
HP: 0011314	Abnormality of long bone morphology	0/20
HP: 0011355	Localized skin lesion	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0011844	Abnormal appendicular skeleton morphology	0/20
HP: 0012089	Arteritis	0/20
HP: 0025015	Abnormal vascular morphology	0/20
HP: 0025021	Abnormal erythrocyte sedimentation rate	0/20
HP: 0025022	Decreased erythrocyte sedimentation rate	0/20
HP: 0025323	Abnormal arterial physiology	0/20
HP: 0025354	Abnormal cellular phenotype	0/20
HP: 0025473	Hyperpigmented papule	0/20
HP: 0030163	Abnormal vascular physiology	0/20
HP: 0030164	Jaw claudication	0/20
HP: 0030680	Abnormality of cardiovascular system morphology	0/20
HP: 0030829	Abnormal breath sound	0/20
HP: 0031409	Abnormal lymphocyte physiology	0/20
HP: 0032000	Pleural rub	0/20
HP: 0032180	Abnormal circulating metabolite concentration	0/20
HP: 0032436	Abnormal C-reactive protein level	0/20
HP: 0040064	Abnormality of limbs	0/20
HP: 0040068	Abnormality of limb bone	0/20
HP: 0200034	Papule	0/20

Name

Top Correlation

HP: 0000118

Phenotypic abnormality

0/20

HP: 0000924

Abnormality of the skeletal system

0/20

HP: 0000940

Abnormal diaphysis morphology

0/20

HP: 0000951