Aplasia/Hypoplasia involving the central nervous system

0002977

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

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Sex Split

Interactive Plot

Statistics

Case	Control
10083	450111

Phenotype Definition

Absence or underdevelopment of tissue in the central nervous system. [HPO:probinson]

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr19:45410002	rs769449	APOE	G>A	2901	115019	41.73	1.047e-10	1.139
chr19:45422946	rs4420638	-	A>G	4376	178135	39.89	2.69e-10	1.114
chr23:64367019	rs7064929	-	G>A	506	17060	39.89	2.685e-10	1.334
chr23:148151708	Affx-34694529	-	A>C	276	8575	35.86	2.121e-09	1.444
chr1:225909815	rs6656088	-	C>T	1491	57118	33.67	6.527e-09	1.171
chr23:106741866	rs35814730	-	A>G	405	13587	32.9	9.68e-09	1.339
chr23:106146349	rs5962774	MORC4	T>C	328	10698	31.99	1.552e-08	1.376
chr23:109167576	rs2475827	-	A>T	532	18667	30.83	2.818e-08	1.281
chr23:109671384	rs768312	AMMECR1	T>C	442	15197	30.05	4.218e-08	1.306
chr14:38329936	rs8019624	TTC6	A>T	539	19213	26.02	3.374e-07	1.253
chr4:127162927	rs10004733	-	A>G	291	9578	25.67	4.052e-07	1.353
chr5:109401174	rs17162644	-	T>C	1918	76216	25.09	5.462e-07	1.129
chr23:111065460	rs3027743	TRPC5	T>C	888	33581	24.93	5.952e-07	1.19
chr1:235551922	rs68180524	TBCE	G>A	2853	115996	24.75	6.52e-07	1.106
chr16:29790864	rs235636	ZG16	A>G	364	12457	24.5	7.416e-07	1.303
chr11:36658439	rs16929249	IFTAP	C>T	2284	91816	24.36	8.004e-07	1.117
chr3:188327555	rs7645635	LPP	T>C	403	13973	24.3	8.231e-07	1.285
chr1:225956849	rs80089891	-	C>T	1608	63286	24.24	8.497e-07	1.138
chr23:40230056	rs7058033	-	A>G	540	19518	24.15	8.918e-07	1.243
chr1:159174683	rs2814778	ACKR1	T>C	526	18851	24.01	9.566e-07	1.245
chr19:45410002	rs769449	APOE	G>A	2825	111855	45.73	1.355e-11	1.149
chr19:45422946	rs4420638	-	A>G	4142	169454	37.82	7.747e-10	1.115
chr1:225909815	rs6656088	-	C>T	1312	50284	31.48	2.013e-08	1.176
chr1:225883327	rs6679709	-	A>G	1545	60641	26.68	2.402e-07	1.148
chr1:225956849	rs80089891	-	C>T	1510	59307	25.59	4.227e-07	1.147
chr19:45395619	rs2075650	TOMM40	A>G	3181	130586	25.4	4.651e-07	1.104
chr10:33848021	rs2601758	-	G>A	5470	258403	24.98	5.806e-07	0.9231
chr16:86487978	rs34803370	-	G>A	3284	135298	24.1	9.14e-07	1.099
chr2:159863485	rs34461409	TANC1	C>T	4862	204364	21.92	2.836e-06	1.081
chr5:90387293	rs114529322	ADGRV1	A>G	501	18109	21.57	3.419e-06	1.237
chr10:30303271	rs117982396	JCAD	T>C	297	10115	21.53	3.477e-06	1.316
chr1:235551922	rs68180524	TBCE	G>A	2608	106959	20.91	4.825e-06	1.102
chr4:37098598	rs11733992	-	G>A	7033	300185	20.89	4.864e-06	1.071
chr11:36658439	rs16929249	IFTAP	C>T	2106	85479	20.54	5.844e-06	1.111
chr1:211320875	rs114920483	AC092017.3	A>G	865	33177	20.49	5.991e-06	1.173
chr2:159764389	rs1522699	-	A>G	9411	434501	20.38	6.351e-06	0.9376
chr2:192967880	rs10497722	TMEFF2	G>T	1686	67645	20.24	6.841e-06	1.123
chr18:55933849	rs75667596	NEDD4L	A>C	256	15126	20.16	7.106e-06	0.7528
chr16:86525060	rs40252	-	T>C	3651	152229	19.92	8.094e-06	1.086
chr6:155527734	rs9397233	TIAM2	C>T	4578	216489	19.6	9.564e-06	0.9275

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr19:45410002	rs769449	APOE	G>A	2825	29433	39.8	2.816e-10	1.143
chr19:45422946	rs4420638	-	A>G	4142	44479	34.35	4.612e-09	1.113
chr1:225909815	rs6656088	-	C>T	1312	13277	26.57	2.536e-07	1.167
chr10:33848021	rs2601758	-	G>A	5470	67782	24.4	7.839e-07	0.9218
chr4:37098598	rs11733992	-	G>A	7033	78251	24.25	8.454e-07	1.079
chr5:90387293	rs114529322	ADGRV1	A>G	501	4659	23.73	1.11e-06	1.26
chr1:225883327	rs6679709	-	A>G	1545	15949	23.57	1.206e-06	1.144
chr5:75244167	rs7737186	-	C>T	9653	108796	23.06	1.566e-06	1.073
chr1:225956849	rs80089891	-	C>T	1510	15584	22.96	1.655e-06	1.144
chr16:86487978	rs34803370	-	G>A	3284	35442	22.8	1.8e-06	1.1
chr19:45395619	rs2075650	TOMM40	A>G	3181	34306	22.44	2.172e-06	1.1
chr6:155527734	rs9397233	TIAM2	C>T	4578	56979	21.37	3.777e-06	0.9223
chr2:192967880	rs10497722	TMEFF2	G>T	1686	17650	20.5	5.948e-06	1.128
chr1:211320875	rs114920483	AC092017.3	A>G	865	8648	20.44	6.138e-06	1.179
chr1:155996261	rs35200356	-	T>C	2383	25463	20.19	7.008e-06	1.108
chr16:20513280	rs72778606	-	G>A	194	3149	20.08	7.427e-06	0.7178
chr16:86525060	rs40252	-	T>C	3651	39808	19.83	8.467e-06	1.089
chr10:30303271	rs117982396	JCAD	T>C	297	2654	19.75	8.835e-06	1.314
chr2:159764389	rs1522699	-	A>G	9411	113831	18.97	1.326e-05	0.9379
chr12:96813907	rs7304724	-	T>C	6436	78779	18.94	1.352e-05	0.9338

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: E230	Hypopituitarism	1/20
ICD: F009	Dementia in Alzheimer's disease, unspecified	2/20
ICD: F067	Mild cognitive disorder	1/20
ICD: G309	Alzheimer's disease, unspecified	2/20
ICD: K227	Barrett's oesophagus	1/20
ICD: N701	Chronic salpingitis and oophoritis	2/20
ICD: O800	Spontaneous vertex delivery	5/20

ID	Name	Top Correlation
ICD-10: C676	Ureteric orifice	0/20
ICD-10: C711	Frontal lobe	0/20
ICD-10: C712	Temporal lobe	0/20
ICD-10: F801	Expressive language disorder	0/20
ICD-10: G821	Spastic paraplegia	0/20
ICD-10: G938	Other specified disorders of brain	0/20
ICD-10: J180	Bronchopneumonia, unspecified	0/20

Aplasia/Hypoplasia involving the central nervous system

0002977

Normal Case/Contol ⓘ

Sibling Case/Control ⓘ

Links

Statistics

Phenotype Definition

Top SNP Information Show Normal Table Show Sibling SNP

Associated Diseases ⓘ Shared SNP diseases No shared SNP diseases

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Top SNP Information

Associated Diseases ^ⓘ