M20.4

Case	Control
2515	457690

Case

Control

2515

457690

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr15:48426484	rs1426654	SLC24A5	A>G	59	27467	53.58	2.485e-13	0.3961
chr5:33951693	rs16891982	SLC45A2	G>C	231	66830	47.17	6.5e-12	0.6318
chr1:36106253	rs584598	PSMB2	A>G	135	43208	41.21	1.366e-10	0.5748
chr5:33958959	rs28777	SLC45A2	A>C	196	56799	39.77	2.861e-10	0.6338
chr15:48392165	rs1834640	-	A>G	89	31535	38.43	5.688e-10	0.5209
chr5:9203914	rs1805972	SEMA5A	T>C	111	36564	37.52	9.047e-10	0.5596
chr1:36008113	rs6702503	KIAA0319L	T>C	133	41694	37.47	9.285e-10	0.5872
chr20:2315543	rs6132532	AL121899.2	A>G	168	49366	36.12	1.856e-09	0.6263
chr1:35745141	rs2458890	ZMYM4	C>T	144	43994	36.07	1.902e-09	0.6046
chr19:42393286	rs717225	ARHGEF1	A>G	53	21890	35.5	2.553e-09	0.4484
chr10:45243171	rs10900107	-	T>C	65	24681	34.65	3.955e-09	0.4867
chr19:42392310	rs2288509	ARHGEF1	C>T	37	17507	34.48	4.303e-09	0.3924
chr19:42391425	rs28521795	ARHGEF1	G>A	42	18780	34.31	4.704e-09	0.4148
chr19:42392441	rs16975619	ARHGEF1	T>C	47	19963	33.81	6.091e-09	0.4365
chr8:145639681	rs1871534	SLC39A4	G>C	40	18105	33.8	6.12e-09	0.4091
chr11:61095368	rs7397033	DDB1	T>C	29	14897	32.33	1.304e-08	0.3622
chr9:117110112	Affx-52344420	AKNA	T>TG	28	14551	32.15	1.429e-08	0.3572
chr15:45556163	rs8023604	SLC28A2	T>C	22	12889	32.13	1.441e-08	0.3173
chr15:45491394	rs1648299	SHF	T>C	38	17121	31.64	1.855e-08	0.4117
chr1:47103172	rs1258066	ATPAF1	T>C	35	16187	30.91	2.704e-08	0.4017

ID	Name	Top Correlation
HP: 0000118	Phenotypic abnormality	3/20
HP: 0000924	Abnormality of the skeletal system	2/20
HP: 0001367	Abnormal joint morphology	4/20
HP: 0001371	Flexion contracture	7/20
HP: 0001760	Abnormality of the foot	8/20
HP: 0001765	Hammertoe	10/20
HP: 0001780	Abnormality of toe	6/20
HP: 0001822	Hallux valgus	4/20
HP: 0001832	Abnormal metatarsal morphology	10/20
HP: 0001844	Abnormality of the hallux	7/20
HP: 0001964	Aplasia/Hypoplasia of metatarsal bones	10/20
HP: 0002813	Abnormality of limb bone morphology	5/20
HP: 0002814	Abnormality of the lower limb	5/20
HP: 0003011	Abnormality of the musculature	1/20
HP: 0003026	Short long bone	8/20
HP: 0003121	Limb joint contracture	7/20
HP: 0003549	Abnormality of connective tissue	8/20
HP: 0005750	Contractures of the joints of the lower limbs	7/20
HP: 0005830	Flexion contracture of toe	11/20
HP: 0006493	Aplasia/hypoplasia involving bones of the lower limbs	8/20
HP: 0006494	Aplasia/Hypoplasia involving bones of the feet	9/20
HP: 0008366	Contractures involving the joints of the feet	5/20
HP: 0009115	Aplasia/hypoplasia involving the skeleton	4/20
HP: 0009815	Aplasia/hypoplasia of the extremities	4/20
HP: 0010051	Deviation of the hallux	4/20
HP: 0010054	Abnormality of the first metatarsal bone	10/20
HP: 0010105	Short first metatarsal	10/20
HP: 0010511	Long toe	13/20
HP: 0010743	Short metatarsal	10/20
HP: 0011297	Abnormal digit morphology	9/20
HP: 0011308	Slender toe	20/20
HP: 0011314	Abnormality of long bone morphology	1/20
HP: 0011729	Abnormality of joint mobility	9/20
HP: 0011805	Abnormal skeletal muscle morphology	2/20
HP: 0011842	Abnormality of skeletal morphology	2/20
HP: 0011844	Abnormal appendicular skeleton morphology	5/20
HP: 0030044	Flexion contracture of digit	11/20
HP: 0040064	Abnormality of limbs	5/20
HP: 0040068	Abnormality of limb bone	5/20
HP: 0040069	Abnormal lower limb bone morphology	9/20
HP: 0045060	Aplasia/hypoplasia involving bones of the extremities	5/20
HP: 0100261	Abnormal tendon morphology	3/20
HP: 0100491	Abnormality of lower limb joint	8/20
HP: 0100492	Joint contractures involving the joints of the feet	11/20
HP: 0100498	Deviation of toes	5/20
HP: 0100500	Fibular deviation of toes	4/20

Name

Top Correlation

HP: 0000118

Phenotypic abnormality

3/20

HP: 0000924

Abnormality of the skeletal system

2/20

HP: 0001367

Abnormal joint morphology

4/20

HP: 0001371