Skin nodule

0200036

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

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Sex Split

Interactive Plot

Statistics

Case	Control
26953	433241

Phenotype Definition

Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. [HPO:skoehler]

Phenotype Comment

A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children.

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	1281	26245	69.24	8.705e-17	0.7864
chr5:33951693	rs16891982	SLC45A2	G>C	3424	63634	65.56	5.633e-16	0.8638
chr5:33958959	rs28777	SLC45A2	A>C	2924	54068	51.36	7.699e-13	0.8697
chr15:48392165	rs1834640	-	A>G	1546	30078	50.98	9.322e-13	0.8282
chr20:2315543	rs6132532	AL121899.2	A>G	2519	47015	50.58	1.142e-12	0.8618
chr15:73142636	rs4777559	-	C>T	675	14311	47.69	5e-12	0.7612
chr6:170602429	rs17860704	DLL1	T>C	508	11210	47.21	6.376e-12	0.7321
chr6:396321	rs12203592	IRF4	C>T	12331	188874	46.97	7.205e-12	1.075
chr5:147863034	rs9325101	HTR4	A>G	773	15967	44.48	2.563e-11	0.7814
chr3:123453061	rs3796164	MYLK	A>G	1246	24333	42.64	6.575e-11	0.8257
chr16:26054595	rs4787807	HS3ST4	T>C	648	13570	41.55	1.15e-10	0.7711
chr6:170242949	rs9396958	-	T>C	751	15363	39.63	3.074e-10	0.7895
chr3:181586376	rs10937067	-	G>A	617	12909	39.17	3.893e-10	0.7721
chr15:45491394	rs1648299	SHF	T>C	810	16349	38.15	6.549e-10	0.7997
chr5:33955673	rs35391	SLC45A2	C>T	2099	38881	37.34	9.905e-10	0.8698
chr5:33955326	rs35390	SLC45A2	A>C	2111	39036	36.63	1.429e-09	0.8713
chr8:6219368	rs2916694	-	G>T	531	11227	36.56	1.484e-09	0.7642
chr12:3417813	rs729914	-	G>T	757	15330	36.47	1.552e-09	0.7978
chr5:33951116	rs35397	SLC45A2	T>G	4834	85274	36.04	1.937e-09	0.9114
chr12:4425122	rs10849033	AC008012.1	A>G	1354	25847	35.57	2.46e-09	0.8453
chr6:396321	rs12203592	IRF4	C>T	12192	186723	34.7	3.85e-09	1.065
chr19:12685157	rs4804198	AC010422.6	C>T	16689	259099	28.09	1.156e-07	1.052
chr18:48178643	rs79417726	MAPK4	T>C	1321	18445	25.11	5.414e-07	1.155
chr19:12664631	rs2861410	AC010422.6	A>G	18638	290501	24.84	6.216e-07	1.048
chr2:202122995	rs3769823	CASP8	G>A	15731	244451	23.74	1.102e-06	1.049
chr19:12691185	rs7247513	AC010422.6	T>C	17421	271298	23.55	1.215e-06	1.047
chr7:72399120	rs77788393	POM121	C>T	1484	26995	21.98	2.754e-06	0.881
chr19:12722332	rs2861405	ZNF490	C>A	17211	268241	21.92	2.837e-06	1.046
chr19:12716493	rs35275129	ZNF490	A>G	18148	283326	21.89	2.884e-06	1.045
chr4:132111061	rs76712623	-	G>A	1066	14817	21.37	3.782e-06	1.159
chr10:116008497	rs9664945	VWA2	G>A	13216	205003	20.58	5.73e-06	1.048
chr10:124987747	rs74738618	-	G>A	1549	22146	20.3	6.607e-06	1.128
chr15:97888848	Affx-12266193	-	T>G	17922	280123	19.98	7.829e-06	1.043
chr17:32796666	rs16969893	-	T>C	4798	72429	19.44	1.037e-05	1.071
chr19:12744132	rs3087801	ZNF490	A>G	17870	279304	19.29	1.126e-05	1.042
chr6:85059490	rs34093401	-	A>C	782	10700	19.2	1.18e-05	1.177
chr5:127552590	rs2546147	-	A>G	14370	223838	19.07	1.257e-05	1.045
chr3:189561323	rs73889852	TP63	A>G	4167	62650	18.74	1.502e-05	1.075
chr12:133278075	rs4883610	PXMP2	T>G	19911	312143	18.54	1.663e-05	1.04
chr2:202143928	rs10931936	CASP8	C>T	14880	231759	18.43	1.762e-05	1.044

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr15:97888848	Affx-12266193	-	T>G	17922	50812	22.98	1.636e-06	1.052
chr7:72399120	rs77788393	POM121	C>T	1484	4992	22.03	2.68e-06	0.8688
chr3:179488011	rs56184125	USP13	G>C	893	2177	21.93	2.824e-06	1.206
chr10:116008497	rs9664945	VWA2	G>A	13216	37220	20.87	4.92e-06	1.055
chr19:55922885	rs12462594	-	T>C	2858	7611	19.97	7.874e-06	1.106
chr3:1337061	rs114308314	CNTN6	G>C	681	1632	19.88	8.248e-06	1.227
chr8:33153586	rs35461448	-	C>T	2835	9115	19.46	1.029e-05	0.9071
chr3:97764285	rs62263062	-	G>A	752	1827	19.13	1.223e-05	1.21
chr3:38051211	rs75495843	PLCD1	G>A	1709	5637	18.74	1.496e-05	0.8856
chr9:7963435	rs62533943	-	A>G	1894	4951	18.68	1.548e-05	1.126
chr13:61966760	rs9570562	-	C>T	23643	71018	18.62	1.594e-05	0.9575
chr8:33020865	rs12682394	-	C>T	1181	3988	18.61	1.603e-05	0.8655
chr9:76237655	rs276782	-	C>A	7540	23305	18.57	1.639e-05	0.9402
chr10:115910928	rs7095762	CCDC186	G>T	12847	36237	18.39	1.801e-05	1.052
chr14:82251849	rs12435077	-	G>A	11485	32306	18.3	1.884e-05	1.054
chr15:81967002	rs9646189	-	C>A	24551	73575	18.2	1.988e-05	0.9568
chr11:4477195	rs2115930	-	T>C	13984	42480	18.16	2.031e-05	0.9528
chr18:63567255	rs77637183	-	C>T	1624	4216	17.97	2.244e-05	1.134
chr9:7405366	rs2997547	-	G>A	21996	62828	17.85	2.39e-05	1.044
chr16:24293285	rs2283551	CACNG3	A>C	12366	34866	17.82	2.424e-05	1.052

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: C787	Secondary malignant neoplasm of liver	5/20
ICD: L031	Cellulitis of other parts of limb	7/20
ICD: L989	Disorder of skin and subcutaneous tissue, unspecified	9/20

ID	Name	Top Correlation
ICD-10: C792	Secondary malignant neoplasm of skin	0/20
ICD-10: H001	Chalazion	0/20
ICD-10: H010	Blepharitis	0/20
ICD-10: H026	Xanthelasma of eyelid	0/20
ICD-10: H113	Conjunctival haemorrhage	0/20
ICD-10: H601	Cellulitis of external ear	0/20
ICD-10: L030	Cellulitis of finger and toe	0/20
ICD-10: L033	Cellulitis of trunk	0/20
ICD-10: L038	Cellulitis of other sites	0/20
ICD-10: L039	Cellulitis, unspecified	0/20
ICD-10: L089	Local infection of skin and subcutaneous tissue, unspecified	0/20
ICD-10: L929	Granulomatous disorder of skin and subcutaneous tissue, unspecified	0/20
ICD-10: M130	Polyarthritis, unspecified	0/20
ICD-10: M359	Systemic involvement of connective tissue, unspecified	0/20
ICD-10: N085	Glomerular disorders in systemic connective tissue disorders	0/20
ICD-10: N644	Mastodynia	0/20
ICD-10: R590	Localised enlarged lymph nodes	0/20