L27.0

Case	Control
550	459655

Case

Control

550

459655

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr3:70626137	rs72948878	-	C>T	54	23263	26.41	2.756e-07	2.019
chr4:111106359	rs116696741	ELOVL6	T>C	87	43587	25.91	3.574e-07	1.752
chr13:66256131	rs17546474	-	T>C	42	16744	25.36	4.749e-07	2.167
chr18:20809447	rs117645043	CABLES1	A>T	32	11854	23.42	1.302e-06	2.325
chr2:162964753	rs10515929	-	G>A	225	141921	23.24	1.433e-06	1.429
chr10:120021686	rs11198334	-	C>T	135	164170	21.25	4.041e-06	0.6574
chr19:7919585	rs73923919	EVI5L	G>A	49	76613	20.78	5.164e-06	0.5199
chr13:108021464	rs9587364	FAM155A	G>T	304	320495	20.67	5.446e-06	0.7382
chr5:173085828	rs75264367	-	C>T	60	29041	20.03	7.605e-06	1.796
chr20:43435386	rs1555303	RIMS4	A>G	401	281664	19.45	1.03e-05	1.313
chr10:106571940	rs114211420	SORCS3	A>G	37	15506	19.45	1.035e-05	2.059
chr15:80991447	rs34994596	ABHD17C	T>C	274	290506	19.44	1.036e-05	0.7376
chr18:70448313	rs76427500	NETO1	C>G	82	43510	18.99	1.312e-05	1.64
chr14:54173958	rs117061898	-	T>C	30	11782	18.95	1.344e-05	2.195
chr2:75839733	rs6732511	-	C>T	240	157341	18.74	1.5e-05	1.368
chr5:42352641	rs76425020	-	C>G	27	10148	18.68	1.544e-05	2.27
chr1:18577873	rs6693239	IGSF21	A>G	429	306663	18.54	1.664e-05	1.3
chr21:43499119	rs117512929	UMODL1	C>T	60	29637	18.52	1.678e-05	1.757
chr1:61820072	rs17121983	NFIA	C>G	37	61304	18.47	1.726e-05	0.4947
chr5:684888	rs55660354	TPPP	A>C	266	178958	18.46	1.739e-05	1.35

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: 0000153	Abnormality of the mouth	0/20
HP: 0000163	Abnormal oral cavity morphology	0/20
HP: 0000164	Abnormality of the dentition	0/20
HP: 0000234	Abnormality of the head	0/20
HP: 0000271	Abnormality of the face	0/20
HP: 0000680	Delayed eruption of primary teeth	0/20
HP: 0000684	Delayed eruption of teeth	0/20
HP: 0000696	Delayed eruption of permanent teeth	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0000951	Abnormality of the skin	0/20
HP: 0000988	Skin rash	0/20
HP: 0000992	Cutaneous photosensitivity	0/20
HP: 0001574	Abnormality of the integument	0/20
HP: 0002012	Abnormality of the abdominal organs	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0004378	Abnormality of the anus	0/20
HP: 0006288	Advanced eruption of teeth	0/20
HP: 0006292	Abnormality of dental eruption	0/20
HP: 0006321	Multiple non-erupting secondary teeth	0/20
HP: 0006337	Premature eruption of permanent teeth	0/20
HP: 0006481	Abnormality of primary teeth	0/20
HP: 0010978	Abnormality of immune system physiology	0/20
HP: 0011024	Abnormality of the gastrointestinal tract	0/20
HP: 0011121	Abnormality of skin morphology	0/20
HP: 0011122	Abnormality of skin physiology	0/20
HP: 0011123	Inflammatory abnormality of the skin	0/20
HP: 0011131	Perianal rash	0/20
HP: 0011354	Generalized abnormality of skin	0/20
HP: 0011355	Localized skin lesion	0/20
HP: 0012282	Morbilliform rash	0/20
HP: 0012647	Abnormal inflammatory response	0/20
HP: 0012649	Increased inflammatory response	0/20
HP: 0012718	Morphological abnormality of the gastrointestinal tract	0/20
HP: 0012732	Anorectal anomaly	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0025527	Serpiginous cutaneous lesion	0/20
HP: 0031816	Abnormal oral morphology	0/20
HP: 0032379	Polymorphous light eruption	0/20
HP: 0040186	Maculopapular exanthema	0/20

Name

Top Correlation

HP: 0000118

Phenotypic abnormality

0/20

HP: 0000152

Abnormality of head or neck

0/20

HP: 0000153

Abnormality of the mouth

0/20

HP: 0000163