MLC1

Basic Information

Gene Symbol	MLC1
Entrez Id	23209
Position	chr22:50497820..50524358
Description	megalencephalic leukoencephalopathy with subcortical cysts 1
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs11101959	22:50510925	A/G	MLC1	intron	0.881	0.99641	0.0177	0.8401		5
rs111258391	22:50507094	T/C	MLC1	intron	0.933	1.01928	0.0159	0.2298		5
rs111816898	22:50514712	A/G	MLC1	intron	0.956	0.98373	0.0166	0.3232		5
rs111834984	22:50502135	T/C	MLC1	intron	0.818	1.01908	0.0157	0.2302		5
rs113262072	22:50500600	A/C	MLC1	intron	0.911	1.02470	0.0162	0.1314		5
rs113397439	22:50507916	A/G	MLC1	intron	0.933	0.98196	0.0159	0.2537		7
rs113833242	22:50506235	A/G	MLC1	intron	0.903	1.02593	0.0163	0.1156		5
rs115774984	22:50502245	T/C	MLC1	intron	0.784	0.94497	0.0218	0.009393		5
rs116892654	22:50508838	T/C	MLC1	intron	0.816	0.97434	0.0617	0.6737		4
rs116939928	22:50520039	T/C	MLC1	intron	0.906	0.96041	0.0604	0.5037		5
rs117090329	22:50522930	A/G	MLC1	intron	0.985	1.03603	0.0185	0.05605		5
rs117165126	22:50510805	T/C	MLC1	intron	0.954	0.93932	0.0256	0.01463		5
rs117218489	22:50520665	C/G	MLC1	intron	0.842	0.97006	0.0154	0.04848		5
rs117303831	22:50503000	A/G	MLC1	intron	0.811	0.97746	0.0624	0.7147		5
rs117474715	22:50499042	C/G	MLC1	ncRNA,untranslated-3	0.694	1.02439	0.0573	0.674		2b
rs117693007	22:50519978	A/G	MLC1	intron	0.913	0.94810	0.0611	0.3833		5
rs11913905	22:50522153	A/G	MLC1	intron	0.980	1.00854	0.0141	0.5451		5
rs12160101	22:50503840	T/C	MLC1	intron	0.928	0.98364	0.0161	0.3062		5
rs12484231	22:50520636	A/G	MLC1	intron	0.884	0.98432	0.0145	0.2741		5
rs12484523	22:50520473	T/C	MLC1	intron	0.988	0.97668	0.0125	0.0588		5
rs12484543	22:50520637	T/C	MLC1	intron	0.890	0.98226	0.0144	0.2144		5
rs13053780	22:50520191	A/G	MLC1	intron	0.986	0.97677	0.0125	0.05971		5
rs13054047	22:50522075	T/C	MLC1	intron	0.859	0.99054	0.0250	0.7047		4
rs13058507	22:50500637	T/C	MLC1	intron	0.716	0.97863	0.0138	0.1181		5
rs138414347	22:50505859	T/C	MLC1	intron	0.830	1.01939	0.0166	0.2466		-
rs139020945	22:50501940	T/G	MLC1	intron	0.705	1.02020	0.0572	0.7265		-
rs139417878	22:50496910	A/G	MLC1	near-gene-5	0.752	1.01086	0.0255	0.6705		-
rs139523825	22:50500554	T/C	MLC1	intron	0.923	0.98010	0.0162	0.2143		-
rs140213963	22:50520384	A/G	MLC1	intron	0.679	1.01542	0.0504	0.7613		-
rs142355967	22:50500527	T/C	MLC1	intron	0.875	1.01532	0.0157	0.333		-
rs143792577	22:50508495	C/G	MLC1	intron	0.758	0.99372	0.0545	0.9086		-
rs144177767	22:50500636	A/G	MLC1	intron	0.649	0.96194	0.0262	0.1384		-
rs145423455	22:50516607	C/G	MLC1	intron	0.631	0.89270	0.0500	0.02304		-
rs146816468	22:50510378	C/G	MLC1	intron	0.870	0.97521	0.0611	0.6811		-
rs147031924	22:50499164	T/C	MLC1	intron,untranslated-3	0.771	1.01765	0.0197	0.3734		-
rs147947836	22:50519982	A/C	MLC1	intron	0.680	1.09330	0.0516	0.08371		-
rs149225277	22:50512112	A/G	MLC1	intron	0.877	0.97190	0.0610	0.64		-
rs149986667	22:50507640	T/C	MLC1	intron	0.924	1.03314	0.0172	0.05804		-
rs150039865	22:50511514	C/G	MLC1	intron	0.874	1.02850	0.0610	0.6453		-
rs150085017	22:50505819	A/G	MLC1	intron	0.803	0.98462	0.0131	0.2367		-
rs181700711	22:50503063	T/G	MLC1	intron	0.811	0.97746	0.0624	0.7143		-
rs184210431	22:50505883	A/G	MLC1	intron	0.863	0.96406	0.0179	0.04062		-
rs186840663	22:50499165	A/G	MLC1	intron,untranslated-3	0.786	0.97414	0.0199	0.1882		-
rs188469019	22:50500601	T/C	MLC1	intron	0.702	0.98020	0.0573	0.7266		-
rs2038048	22:50512617	T/C	MLC1	intron	0.963	1.00070	0.0109	0.9492		5
rs2072873	22:50499967	T/C	MLC1	ncRNA,untranslated-3	0.833	1.00622	0.0168	0.7142		5
rs2072874	22:50515808	T/C	MLC1	intron	0.977	0.98748	0.0150	0.4002		5
rs2076126	22:50523880	A/G	MLC1	near-gene-5,untranslated-5	0.919	0.94658	0.0606	0.3647		4
rs2076127	22:50506668	T/C	MLC1	intron	0.904	1.00692	0.0139	0.6204		5
rs2076128	22:50508586	A/G	MLC1	intron	0.931	0.98000	0.0160	0.2063		7
rs2076129	22:50508672	A/T	MLC1	intron	0.928	0.97609	0.0170	0.1548		5
rs2076130	22:50508702	A/C	MLC1	intron	0.931	1.02030	0.0160	0.208		5
rs2076131	22:50508721	A/G	MLC1	intron	0.930	1.02306	0.0170	0.1796		5
rs2076132	22:50508781	A/G	MLC1	intron	0.920	1.02153	0.0160	0.1819		2b
rs2076133	22:50508796	A/G	MLC1	intron	0.929	1.02051	0.0160	0.2047		2b
rs2076134	22:50508895	A/G	MLC1	intron	0.929	1.02030	0.0160	0.2084		4
rs2076135	22:50508897	T/G	MLC1	intron	0.929	0.97990	0.0160	0.2042		4
rs2076136	22:50509196	A/G	MLC1	intron	0.982	1.01959	0.0145	0.1797		5
rs2076137	22:50515766	T/C	MLC1	intron	0.977	0.98748	0.0150	0.4034		5
rs2235348	22:50511475	T/C	MLC1	intron	0.801	0.97395	0.0204	0.1945		5
rs2235349	22:50518239	T/C	MLC1	intron	0.979	1.02552	0.0124	0.04239		5
rs2235350	22:50520879	A/G	MLC1	intron	0.988	1.02398	0.0125	0.05758		5
rs2235351	22:50520896	A/G	MLC1	intron	0.984	0.96522	0.0185	0.05627		5
rs2235352	22:50521130	A/G	MLC1	intron	0.987	1.02398	0.0125	0.05741		7
rs2235353	22:50521157	A/G	MLC1	intron	0.988	1.02398	0.0125	0.05789		6
rs2272832	22:50512514	T/G	MLC1	intron	0.966	1.00753	0.0109	0.493		5
rs2281113	22:50500708	A/C	MLC1	intron	0.864	1.02327	0.0176	0.1927		5
rs2281114	22:50519332	C/G	MLC1	intron	0.956	0.99322	0.0249	0.785		7
rs2294377	22:50497419	A/G	MLC1	near-gene-3,near-gene-5	0.877	1.01888	0.0176	0.2861		5
rs2294379	22:50497603	T/C	MLC1	near-gene-3,near-gene-5	0.821	0.99940	0.0119	0.9617		2b
rs2294380	22:50497645	A/T	MLC1	near-gene-3,near-gene-5	0.671	0.95171	0.0646	0.4433		2b
rs2294381	22:50497694	A/G	MLC1	near-gene-3,near-gene-5	0.828	0.97863	0.0195	0.2677		2a
rs2294382	22:50498678	T/C	MLC1	ncRNA,untranslated-3	0.692	0.97599	0.0573	0.6719		5
rs2294384	22:50498869	A/G	MLC1	ncRNA,untranslated-3	0.642	1.00260	0.0529	0.9613		4
rs2294385	22:50504446	A/G	MLC1	intron	0.951	0.97404	0.0193	0.1725		5
rs2294386	22:50504686	A/G	MLC1	intron	0.923	1.02470	0.0170	0.1529		7
rs2294387	22:50504737	A/G	MLC1	intron	0.932	0.98138	0.0159	0.2372		7
rs2294388	22:50504741	A/G	MLC1	intron	0.930	1.01826	0.0159	0.2542		7
rs2294389	22:50504781	A/G	MLC1	intron	0.932	1.01898	0.0159	0.237		6
rs2294390	22:50504804	T/C	MLC1	intron	0.932	1.01898	0.0159	0.2375		7
rs2294391	22:50509917	T/C	MLC1	intron	0.948	0.98196	0.0156	0.2451		5
rs2294392	22:50509977	A/G	MLC1	intron	0.949	1.01826	0.0156	0.2455		5
rs2294393	22:50510015	T/C	MLC1	intron	0.950	0.98206	0.0156	0.2464		5
rs2294394	22:50510258	T/C	MLC1	intron	0.973	0.99960	0.0122	0.9759		5
rs28362607	22:50523745	A/G	MLC1	intron,untranslated-5	0.605	1.00592	0.0560	0.9163		2a
rs3215477	22:50498643	I2/D	MLC1	ncRNA,untranslated-3	0.691	0.97590	0.0573	0.671		-
rs35110809	22:50506385	A/C	MLC1	intron	0.904	0.99312	0.0139	0.6206		5
rs35480507	22:50508798	T/C	MLC1	intron	0.916	0.96339	0.0176	0.0342		2b
rs35730155	22:50498389	A/C	MLC1	near-gene-5,ncRNA,untranslated-3	0.828	0.99681	0.0168	0.8496		5
rs35871037	22:50505289	I2/D	MLC1	intron	0.907	0.98295	0.0161	0.2848		-
rs3817808	22:50501281	T/C	MLC1	intron	0.930	0.97804	0.0161	0.1699		5
rs3817809	22:50501485	A/G	MLC1	intron	0.931	0.97697	0.0161	0.1489		5
rs3817810	22:50501544	A/G	MLC1	intron	0.930	1.02245	0.0161	0.1699		5
rs3817811	22:50501586	T/C	MLC1	intron	0.930	0.97814	0.0161	0.1703		5
rs3817812	22:50501630	T/G	MLC1	intron	0.930	0.97814	0.0161	0.1705		5
rs3817814	22:50501887	C/G	MLC1	intron	0.839	1.02388	0.0185	0.2012		7
rs3817815	22:50501888	T/C	MLC1	intron	0.856	1.02685	0.0179	0.14		7
rs3830745	22:50504507	I2/D	MLC1	intron	0.933	1.01867	0.0159	0.2454		-
rs41283487	22:50498049	C/G	MLC1	near-gene-5,ncRNA,untranslated-3	0.780	1.00240	0.0274	0.9297		4
rs41283489	22:50498248	A/C	MLC1	near-gene-5,ncRNA,untranslated-3	0.819	1.00150	0.0152	0.9227		5
rs41283491	22:50499075	A/G	MLC1	ncRNA,untranslated-3	0.905	0.98020	0.0162	0.2174		5
rs41283493	22:50499169	A/G	MLC1	intron,untranslated-3	0.785	0.97443	0.0200	0.1947		5
rs41283496	22:50499957	A/G	MLC1	ncRNA,untranslated-3	0.803	0.96368	0.0283	0.1913		5
rs4292181	22:50507527	A/C	MLC1	intron	0.933	1.01928	0.0159	0.2302		7
rs4311156	22:50507739	C/G	MLC1	intron	0.933	0.98196	0.0159	0.2533		7
rs4838816	22:50517329	A/G	MLC1	intron	0.984	0.98629	0.0150	0.3574		5
rs4838880	22:50499239	T/C	MLC1	ncRNA,untranslated-3	0.827	0.99074	0.0161	0.5639		5
rs4838882	22:50515459	A/G	MLC1	intron	0.965	1.02665	0.0190	0.1651		5
rs4838883	22:50524285	T/C	MLC1	near-gene-5,untranslated-5	0.985	0.98975	0.0151	0.4967		2b
rs6010164	22:50515270	T/C	MLC1	coding-synon,ncRNA	0.970	1.02020	0.0166	0.2284		5
rs6010165	22:50515273	A/G	MLC1	coding-synon,ncRNA	0.970	0.98020	0.0166	0.2286		5
rs6010254	22:50504079	T/C	MLC1	intron	0.933	0.98177	0.0159	0.2479		5
rs6010259	22:50513871	T/C	MLC1	intron	0.933	1.01298	0.0117	0.2712		5
rs6010260	22:50515843	A/C	MLC1	ncRNA,missense	0.972	0.97902	0.0166	0.2027		5
rs72571103	22:50514611	D/I3	MLC1	intron	0.973	1.01248	0.0150	0.4112		-
rs7285675	22:50511477	T/C	MLC1	intron	0.800	1.02419	0.0183	0.1911		5
rs73183369	22:50501137	A/G	MLC1	intron	0.900	1.02173	0.0160	0.178		5
rs73183370	22:50501957	C/G	MLC1	intron	0.820	1.01187	0.0127	0.3533		5
rs73183374	22:50504310	T/C	MLC1	intron	0.933	0.98177	0.0159	0.2482		5
rs73183380	22:50506440	T/C	MLC1	intron	0.877	1.01450	0.0122	0.2355		5
rs73183381	22:50507786	T/C	MLC1	intron	0.933	0.98196	0.0159	0.2533		6
rs73183383	22:50507801	A/C	MLC1	intron	0.933	1.01837	0.0159	0.2534		7
rs73183393	22:50511819	A/G	MLC1	intron	0.946	0.98985	0.0251	0.6847		5
rs73185306	22:50522524	T/C	MLC1	intron	0.984	0.96522	0.0185	0.05598		5
rs73185307	22:50522677	A/G	MLC1	intron	0.984	0.96522	0.0185	0.05603		5
rs75152548	22:50500263	T/C	MLC1	intron	0.923	1.02030	0.0162	0.2145		3a
rs75450062	22:50505954	A/G	MLC1	intron	0.627	1.00210	0.0302	0.9444		4
rs75474964	22:50507064	C/G	MLC1	intron	0.933	0.98108	0.0159	0.23		5
rs76093749	22:50513535	T/C	MLC1	intron	0.827	1.00341	0.0355	0.9226		5
rs78212605	22:50502999	T/C	MLC1	intron	0.644	0.98995	0.0456	0.8242		5
rs79301	22:50518723	A/G	MLC1	intron	0.916	0.97181	0.0219	0.1903		5
rs80312581	22:50498239	C/G	MLC1	near-gene-5,ncRNA,untranslated-3	0.658	0.96021	0.0555	0.464		5
rs8136173	22:50502888	T/C	MLC1	intron	0.922	0.97492	0.0170	0.1361		5
rs8137998	22:50503336	A/C	MLC1	intron	0.900	0.98226	0.0160	0.2636		5
rs8137999	22:50517777	T/C	MLC1	intron	0.963	1.01086	0.0118	0.359		5
rs8139713	22:50517742	A/G	MLC1	intron	0.981	1.01268	0.0150	0.399		5
rs8142282	22:50502886	T/C	MLC1	intron	0.901	1.01420	0.0112	0.2099		5
rs9617059	22:50510849	T/C	MLC1	intron	0.931	1.01552	0.0155	0.3208		5
rs9617060	22:50513784	A/G	MLC1	intron	0.967	0.98649	0.0153	0.3732		5
rs9617062	22:50521775	T/C	MLC1	intron	0.989	0.97668	0.0125	0.0584		4
rs9617063	22:50522136	T/C	MLC1	intron	0.989	1.02378	0.0125	0.05952		5
rs9617140	22:50504064	A/G	MLC1	intron	0.907	1.01704	0.0160	0.2913		5
rs9617142	22:50505321	C/G	MLC1	intron	0.907	0.98295	0.0161	0.285		5
rs9617144	22:50512116	T/G	MLC1	intron	0.963	1.01410	0.0154	0.3624		5
rs9617145	22:50514461	T/C	MLC1	intron	0.973	1.01288	0.0150	0.3951		5
rs9617146	22:50519580	T/C	MLC1	intron	0.969	0.97521	0.0126	0.04683		7
rs9617147	22:50521781	A/C	MLC1	intron	0.987	0.97638	0.0125	0.05532		4
rs9628280	22:50514899	A/G	MLC1	intron	0.944	1.00672	0.0110	0.5413		7
rs9628320	22:50498885	A/G	MLC1	ncRNA,untranslated-3	0.827	1.01066	0.0126	0.3988		4
SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*

Note: RegulomeDB score^*

score	supporting data	score	supporting data
1a	eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak	6	other
2a	TF binding + matched TF motif + matched DNase Footprint + DNase peak	5	TF binding or DNase peak
1b	eQTL + TF binding + any motif + DNase Footprint + DNase peak	4	TF binding + DNase peak
2b	TF binding + any motif + DNase Footprint + DNase peak	3b	TF binding + matched TF motif
1c	eQTL + TF binding + matched TF motif + DNase peak	1f	eQTL + TF binding / DNase peak
2c	TF binding + matched TF motif + DNase peak	3a	TF binding + any motif + DNase peak
1d	eQTL + TF binding + any motif + DNase peak	1e	eQTL + TF binding + matched TF motif

CNV Information

The gene is not affected by CNV!

eQTL Information