ARVCF

Basic Information

Gene Symbol	ARVCF
Entrez Id	421
Position	chr22:19957402..20004309
Description	armadillo repeat gene deleted in velocardiofacial syndrome
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs1034564	22:19984013	T/C	ARVCF	intron	0.989	0.98570	0.0117	0.2176		5
rs1034565	22:19984211	T/C	ARVCF	intron	1.000	0.98995	0.0117	0.3872		4
rs1034566	22:19984277	T/C	ARVCF	intron	0.989	0.99064	0.0118	0.4245		4
rs11089325	22:19984200	T/C	ARVCF	intron	0.924	1.03541	0.0217	0.1089		4
rs1110478	22:19962769	T/C	ARVCF	intron	0.997	1.02092	0.0155	0.1811		4
rs1110479	22:19962787	T/C	ARVCF	intron	0.990	0.97541	0.0207	0.2293		4
rs111598545	22:20001822	A/G	ARVCF	intron	0.924	1.02675	0.0281	0.3475		7
rs111675839	22:19994180	C/G	ARVCF	intron	0.979	1.02163	0.0147	0.1468		7
rs113588830	22:19991471	T/C	ARVCF	intron	0.819	0.98226	0.0511	0.7258		5
rs113783419	22:19994833	A/G	ARVCF	intron	0.980	0.97365	0.0270	0.324		7
rs117164455	22:19994146	A/G	ARVCF	intron	0.742	0.91384	0.0610	0.1396		6
rs117393483	22:19991120	A/G	ARVCF	intron	0.715	0.99541	0.0352	0.8965		4
rs117426640	22:19992933	A/G	ARVCF	intron	0.971	0.98285	0.0373	0.6432		7
rs117467671	22:19975692	A/G	ARVCF	intron,near-gene-5	0.891	1.04613	0.0468	0.3354		5
rs118099683	22:19987745	T/C	ARVCF	intron	0.779	1.22924	0.0580	0.0003739		5
rs1210744	22:19982478	A/G	ARVCF	intron	0.990	0.97375	0.0209	0.202		5
rs12158201	22:19966749	T/C	ARVCF	intron	0.999	0.98896	0.0214	0.6031		5
rs12165361	22:19983303	T/C	ARVCF	intron	0.996	1.01157	0.0144	0.4246		5
rs12169508	22:19961007	C/G	ARVCF	intron	0.989	1.01177	0.0146	0.4223		3a
rs12171109	22:19991950	A/G	ARVCF	intron	0.992	0.99601	0.0130	0.7583		5
rs12329964	22:19959033	A/G	ARVCF	intron	0.991	1.01096	0.0146	0.4534		2b
rs12485043	22:19977840	T/C	ARVCF	intron	0.999	1.01177	0.0145	0.4191		2b
rs12627876	22:19962848	T/C	ARVCF	intron	0.980	1.01857	0.0367	0.6166		2b
rs12628032	22:19967980	T/C	ARVCF	intron	0.982	0.98866	0.0115	0.3189		5
rs13056165	22:19959011	A/G	ARVCF	intron	0.902	1.00020	0.0150	0.9908		4
rs140056687	22:19983156	A/G	ARVCF	intron	0.835	1.00060	0.0512	0.9905		-
rs142645458	22:19969367	A/C	ARVCF	intron	0.714	1.10230	0.0633	0.1241		-
rs146344141	22:20001434	T/C	ARVCF	intron	0.914	0.99005	0.0353	0.7765		-
rs150106922	22:19964770	A/G	ARVCF	intron	0.677	0.92432	0.0613	0.199		-
rs165815	22:19959473	T/C	ARVCF	missense	0.984	1.02994	0.0147	0.04474		5
rs165849	22:19958669	A/G	ARVCF	intron	0.990	1.01147	0.0114	0.3144		4
rs16982894	22:19978074	A/T	ARVCF	intron	0.988	1.02501	0.0267	0.3546		5
rs17173678	22:19969725	A/G	ARVCF	intron	0.988	0.97570	0.0269	0.3604		2b
rs17817568	22:19983932	T/C	ARVCF	intron	0.977	1.01643	0.0372	0.6606		5
rs17817586	22:19995480	T/G	ARVCF	intron	0.969	0.98462	0.0374	0.678		7
rs181928897	22:19994050	T/C	ARVCF	intron	0.669	0.92709	0.0426	0.07535		-
rs189617544	22:19982438	C/G	ARVCF	intron	0.682	1.01390	0.0655	0.8325		-
rs191267581	22:19979041	A/G	ARVCF	intron	0.891	0.95600	0.0468	0.3359		-
rs191535704	22:19982123	A/G	ARVCF	intron	0.660	0.99750	0.0258	0.9215		-
rs193191275	22:19974664	T/C	ARVCF	intron,near-gene-5,untranslated-5	0.728	0.92914	0.0557	0.1874		-
rs1978233	22:20000950	T/G	ARVCF	intron	0.718	0.96474	0.0471	0.4463		3a
rs1989843	22:19996829	A/G	ARVCF	intron	0.985	1.01552	0.0108	0.1548		5
rs1990276	22:19996878	C/G	ARVCF	intron	0.983	0.98847	0.0115	0.3116		5
rs1990277	22:19970502	A/G	ARVCF	intron	0.987	1.01603	0.0108	0.1387		5
rs2073741	22:19989890	T/C	ARVCF	intron	0.992	0.99611	0.0130	0.7615		4
rs2073742	22:19989642	A/G	ARVCF	intron	0.993	1.00411	0.0130	0.7508		4
rs2073743	22:19989612	C/G	ARVCF	intron	0.985	1.01025	0.0118	0.3894		1f
rs2073744	22:19959955	A/G	ARVCF	intron	0.977	0.96812	0.0172	0.05927		5
rs2073745	22:19985507	A/G	ARVCF	intron	0.988	1.01298	0.0106	0.2238		4
rs2073746	22:19978558	T/C	ARVCF	intron	1.000	0.99950	0.0124	0.9652		4
rs2073747	22:19969075	A/G	ARVCF	coding-synon	1.000	0.99880	0.0124	0.925		5
rs2073748	22:19968971	A/G	ARVCF	missense	0.986	0.98501	0.0111	0.173		5
rs2079701	22:19992015	A/G	ARVCF	intron	0.962	0.98049	0.0108	0.06885		5
rs2079702	22:20001006	A/G	ARVCF	intron	0.960	1.03800	0.0215	0.08203		4
rs2106140	22:19988245	A/G	ARVCF	intron	0.984	1.01847	0.0107	0.08803		4
rs2157730	22:19998204	T/C	ARVCF	intron	0.979	1.02245	0.0149	0.1352		2b
rs2159268	22:19988517	C/G	ARVCF	intron	0.984	1.03614	0.0213	0.09511		5
rs2238780	22:19970014	C/G	ARVCF	intron	0.994	0.97434	0.0208	0.2107		5
rs2238781	22:19970547	T/G	ARVCF	intron	0.987	0.98521	0.0111	0.1776		5
rs2238782	22:19970583	A/G	ARVCF	intron	0.985	1.01521	0.0111	0.1737		4
rs2238783	22:19972452	C/G	ARVCF	intron,untranslated-5	0.987	1.01542	0.0111	0.1679		4
rs2238784	22:19972559	A/G	ARVCF	intron,untranslated-5	0.986	0.98541	0.0117	0.2107		2b
rs2238786	22:19975444	A/G	ARVCF	intron,near-gene-5	0.986	1.01440	0.0117	0.221		1f
rs2238787	22:19976406	A/G	ARVCF	intron,near-gene-5	0.985	0.98560	0.0117	0.216		4
rs2238788	22:19980300	T/C	ARVCF	intron	0.987	1.01572	0.0108	0.1476		5
rs2238789	22:19980548	A/G	ARVCF	intron	0.993	0.97492	0.0208	0.2227		5
rs2238790	22:19983014	A/G	ARVCF	intron	0.992	1.02122	0.0110	0.05764		1f
rs2238791	22:19983111	A/C	ARVCF	intron	0.987	1.01755	0.0107	0.1035		5
rs2238792	22:19983213	T/C	ARVCF	intron	0.988	0.98541	0.0117	0.2084		5
rs2238793	22:19987406	C/G	ARVCF	intron	0.986	0.98620	0.0106	0.1913		5
rs2238794	22:19998618	C/G	ARVCF	intron	0.981	0.98768	0.0110	0.2559		3a
rs2238795	22:19998655	C/G	ARVCF	intron	0.982	0.99840	0.0125	0.8997		5
rs2238797	22:19999164	T/C	ARVCF	intron	0.977	1.03852	0.0202	0.06171		2b
rs2239394	22:19961926	A/G	ARVCF	intron,untranslated-3	0.994	0.98413	0.0250	0.5238		4
rs2239395	22:19962203	T/G	ARVCF	intron	1.000	1.03262	0.0256	0.2104		4
rs2240713	22:19961101	T/C	ARVCF	intron	0.993	0.97151	0.0262	0.2704		5
rs2240714	22:19961010	T/C	ARVCF	intron	0.990	0.98432	0.0254	0.534		3a
rs2240715	22:19960606	C/G	ARVCF	intron	0.990	0.98847	0.0114	0.3052		4
rs2240716	22:19969696	T/C	ARVCF	intron	0.983	0.98847	0.0115	0.3133		1f
rs2240717	22:19969106	A/G	ARVCF	missense	0.987	1.01532	0.0111	0.17		5
rs2240718	22:19964418	T/G	ARVCF	intron	0.991	0.97365	0.0208	0.1996		5
rs2256984	22:19988676	T/C	ARVCF	intron	0.987	0.97590	0.0208	0.2418		5
rs2518823	22:19960188	T/C	ARVCF	intron	0.978	0.96773	0.0171	0.05604		2b
rs2518824	22:19962963	T/G	ARVCF	intron	0.999	1.00361	0.0115	0.755		2b
rs2518825	22:19969964	T/G	ARVCF	intron	0.987	1.01623	0.0108	0.1349		5
rs2531693	22:19984612	C/G	ARVCF	intron	0.987	0.98285	0.0107	0.1059		5
rs2531694	22:19987764	A/C	ARVCF	intron	0.987	0.97599	0.0208	0.2426		5
rs2531696	22:19999486	T/C	ARVCF	intron	0.981	1.01248	0.0110	0.2588		4
rs2531697	22:19999492	T/C	ARVCF	intron	0.982	0.97541	0.0208	0.2307		4
rs34352339	22:19973242	D/I4	ARVCF	intron,near-gene-5	0.985	1.01410	0.0111	0.2068		-
rs35219372	22:19958811	T/C	ARVCF	coding-synon,intron	0.955	0.98236	0.0346	0.6069		4
rs35845824	22:19985349	A/G	ARVCF	intron	0.898	1.01440	0.0143	0.3172		4
rs41458445	22:19998088	A/G	ARVCF	intron	0.897	0.97922	0.0167	0.2077		4
rs45629237	22:19977990	T/C	ARVCF	intron	0.988	0.97560	0.0267	0.3549		5
rs4819526	22:19974032	T/C	ARVCF	intron,near-gene-5	0.988	1.01816	0.0113	0.1105		3a
rs4819527	22:19978022	T/C	ARVCF	intron	0.988	0.98216	0.0113	0.1091		5
rs4819852	22:19988167	A/G	ARVCF	intron	0.986	0.98965	0.0118	0.3796		1f
rs4819853	22:19999760	A/G	ARVCF	intron	0.981	1.00944	0.0113	0.4064		1f
rs58232028	22:19969947	A/C	ARVCF	intron	0.989	0.97648	0.0266	0.3723		5
rs59895465	22:19991463	T/C	ARVCF	intron	0.985	0.97472	0.0269	0.342		5
rs5993891	22:19959746	T/C	ARVCF	intron	0.991	0.98413	0.0251	0.5242		5
rs60067834	22:19967226	T/C	ARVCF	intron	0.987	0.97570	0.0269	0.3608		5
rs62223683	22:19959227	A/G	ARVCF	intron	0.803	1.01582	0.0224	0.4839		4
rs62223685	22:19960140	A/G	ARVCF	intron	0.989	1.01157	0.0146	0.4299		2b
rs62223687	22:19973597	T/C	ARVCF	intron,near-gene-5	0.999	1.01126	0.0145	0.4402		2b
rs62223688	22:19974074	T/C	ARVCF	intron,near-gene-5	0.875	0.95476	0.0203	0.0223		4
rs62223723	22:19995878	T/C	ARVCF	intron	0.841	0.98570	0.0203	0.4804		4
rs62223725	22:19996569	T/G	ARVCF	intron	0.801	1.05527	0.0403	0.182		5
rs6518596	22:19993299	A/G	ARVCF	intron	0.984	0.99890	0.0131	0.9343		7
rs68091552	22:19995514	D/I3	ARVCF	intron	0.919	1.01928	0.0131	0.1458		-
rs71313931	22:19960184	C/G	ARVCF	intron	0.956	1.01349	0.0119	0.2587		2b
rs71313932	22:19960198	C/G	ARVCF	intron	0.956	0.98659	0.0119	0.2584		2b
rs71313933	22:19974905	T/C	ARVCF	intron,near-gene-5	0.984	1.01939	0.0113	0.08783		2b
rs72554701	22:19958612	A/G	ARVCF	intron	0.952	0.97083	0.0320	0.3549		4
rs7285377	22:19987202	T/G	ARVCF	intron	0.987	0.99054	0.0118	0.4217		1f
rs73150820	22:19958022	A/G	ARVCF	intron,untranslated-3	0.984	1.01005	0.0145	0.4907		4
rs73150831	22:19972544	T/G	ARVCF	intron,untranslated-5	0.847	0.99471	0.0192	0.7806		4
rs73150834	22:19972630	T/C	ARVCF	intron,untranslated-5	0.846	0.99412	0.0194	0.7621		3a
rs73150839	22:19981666	A/G	ARVCF	intron	0.789	1.06727	0.0298	0.02915		5
rs73150842	22:19990983	A/G	ARVCF	intron	0.765	0.96715	0.0262	0.2019		5
rs73387763	22:19985174	T/G	ARVCF	intron	0.989	1.02419	0.0267	0.3715		4
rs73877106	22:19998963	T/G	ARVCF	intron	0.972	1.02644	0.0272	0.3368		2b
rs73877107	22:19999271	T/C	ARVCF	intron	0.971	0.97424	0.0272	0.3366		4
rs73877109	22:20002231	T/C	ARVCF	intron	0.921	0.97668	0.0282	0.4018		5
rs73880035	22:19963423	T/C	ARVCF	intron	0.991	0.97297	0.0265	0.3008		5
rs73880048	22:19972365	T/C	ARVCF	intron,untranslated-5	0.988	1.02501	0.0269	0.3588		2b
rs73880052	22:19977706	A/C	ARVCF	intron	0.989	1.02429	0.0266	0.3669		4
rs73880057	22:19979266	A/G	ARVCF	intron	0.988	1.02542	0.0269	0.3494		2b
rs73880059	22:19982694	A/G	ARVCF	intron	0.989	1.02562	0.0269	0.3472		4
rs73880060	22:19984203	A/G	ARVCF	intron	0.989	0.97511	0.0269	0.3497		4
rs73880061	22:19984301	T/C	ARVCF	intron	0.989	0.97511	0.0269	0.3502		2b
rs73880064	22:19985744	A/G	ARVCF	intron	0.988	0.97541	0.0269	0.3558		5
rs73880069	22:19988258	T/G	ARVCF	intron	0.988	0.97560	0.0269	0.3589		2b
rs74544696	22:19967480	C/G	ARVCF	coding-synon	0.980	0.98108	0.0370	0.6061		5
rs74674870	22:19988217	C/G	ARVCF	intron	0.820	0.96175	0.0562	0.487		4
rs74780487	22:19992685	T/C	ARVCF	intron	0.965	0.95801	0.0352	0.2239		6
rs75281572	22:19961433	T/C	ARVCF	intron,near-gene-3	0.957	0.97239	0.0268	0.2972		3a
rs75314165	22:19998486	T/C	ARVCF	intron	0.965	1.02010	0.0375	0.5962		3a
rs75767932	22:19982682	T/C	ARVCF	intron	0.870	1.03138	0.0193	0.11		2b
rs76776717	22:19976910	T/C	ARVCF	intron	0.946	0.97677	0.0327	0.4714		4
rs76973306	22:19964449	A/G	ARVCF	intron	0.816	0.95609	0.0563	0.4257		5
rs77028464	22:19990868	C/G	ARVCF	intron	0.968	0.98472	0.0382	0.6871		5
rs77900476	22:19964151	T/G	ARVCF	intron	0.947	0.97824	0.0325	0.4978		5
rs78557309	22:19973878	T/G	ARVCF	intron,near-gene-5	0.828	0.91732	0.0532	0.1045		5
rs78859690	22:19981694	T/C	ARVCF	intron	0.988	0.97511	0.0269	0.3494		5
rs79440454	22:19994085	C/G	ARVCF	intron	0.970	1.01725	0.0373	0.6469		7
rs80068543	22:19969043	T/C	ARVCF	missense	0.979	1.02173	0.0370	0.5605		5
rs8135174	22:19998386	T/C	ARVCF	intron	0.976	0.99631	0.0108	0.731		4
rs877118	22:19996570	T/C	ARVCF	intron	0.984	1.01562	0.0108	0.1502		5
rs886162	22:19995836	C/G	ARVCF	intron	0.981	1.00995	0.0107	0.3561		4
rs887199	22:19961955	A/G	ARVCF	intron,untranslated-3	0.987	0.96948	0.0147	0.03422		4
rs887200	22:19963666	T/C	ARVCF	intron	0.998	1.02071	0.0155	0.1852		5
rs887201	22:19976834	C/G	ARVCF	intron	0.994	0.97443	0.0208	0.2133		4
rs887202	22:19996240	A/G	ARVCF	intron	0.980	0.97619	0.0208	0.2473		5
rs887203	22:19996255	A/G	ARVCF	intron	0.980	0.97619	0.0208	0.2474		5
rs887204	22:19967068	A/G	ARVCF	intron	1.000	1.00331	0.0115	0.775		5
rs917478	22:19972824	T/C	ARVCF	intron,untranslated-5	0.987	1.01532	0.0111	0.1688		5
rs917479	22:19973205	T/G	ARVCF	intron,near-gene-5	0.987	1.01521	0.0111	0.1729		5
rs9605043	22:19974344	A/G	ARVCF	intron,near-gene-5	0.979	1.01562	0.0113	0.1691		3a
rs9606202	22:19969400	A/G	ARVCF	intron	0.801	1.01715	0.0207	0.4103		5
rs9606203	22:19972118	A/C	ARVCF	intron,untranslated-5	0.986	0.98580	0.0117	0.2226		4
rs9606204	22:19976510	A/C	ARVCF	intron,near-gene-5	0.986	0.98570	0.0117	0.2172		4
rs9617857	22:19990789	T/G	ARVCF	intron	0.990	1.00280	0.0140	0.843		5
rs9618723	22:19968597	T/C	ARVCF	intron	0.998	1.01187	0.0145	0.4137		5
rs9618724	22:19971391	T/C	ARVCF	intron,untranslated-5	0.999	1.01157	0.0145	0.4261		2b
rs9618725	22:19991067	T/C	ARVCF	intron	0.990	0.99720	0.0140	0.8411		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

Reference	Study type	Sample size
18668038	GWAS	3391 cases; 3181 controls
18511947	GWAS	359 cases; 718 controls
19181681	GWAS	471 cases; 2792 controls
Reference	Study type	Sample size

eQTL Information