EFHD1

Basic Information

Gene Symbol	EFHD1
Entrez Id	80303
Position	chr2:233470767..233547491
Description	EF-hand domain family, member D1
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs10165093	2:233503989	A/G	EFHD1	intron	0.946	0.98837	0.0110	0.286		6
rs10166451	2:233479640	T/C	EFHD1	intron	0.926	1.00190	0.0115	0.8701		6
rs10166842	2:233482060	A/G	EFHD1	intron	0.939	0.99820	0.0121	0.8809		7
rs10173752	2:233484154	A/G	EFHD1	intron	0.954	1.01420	0.0108	0.192		7
rs10177892	2:233504346	T/C	EFHD1	intron	0.968	1.01268	0.0108	0.2432		5
rs10187744	2:233516297	C/G	EFHD1	intron	0.969	1.01400	0.0108	0.1994		6
rs10191109	2:233482306	A/G	EFHD1	intron	0.922	0.98629	0.0112	0.2183		7
rs10191115	2:233482319	A/G	EFHD1	intron	0.890	1.00371	0.0121	0.7625		6
rs10193825	2:233510622	A/G	EFHD1	intron	0.991	1.01045	0.0107	0.3306		5
rs10197060	2:233483759	T/C	EFHD1	intron	0.912	0.99960	0.0121	0.972		6
rs10201323	2:233479643	A/G	EFHD1	intron	0.931	0.98610	0.0112	0.2104		6
rs10203111	2:233482038	T/C	EFHD1	intron	0.954	1.01582	0.0108	0.1471		7
rs10203216	2:233482125	T/C	EFHD1	intron	0.889	1.00140	0.0121	0.907		6
rs10206127	2:233532567	C/G	EFHD1	intron	0.975	1.00441	0.0119	0.7121		7
rs10206732	2:233483306	T/C	EFHD1	intron	0.954	1.01481	0.0108	0.1743		7
rs10933399	2:233483127	A/G	EFHD1	intron	0.954	1.01481	0.0108	0.173		6
rs10933400	2:233500325	T/G	EFHD1	intron	0.919	1.01288	0.0110	0.2432		6
rs10933401	2:233506702	T/C	EFHD1	intron	0.979	0.98364	0.0107	0.1236		5
rs10933402	2:233528356	A/G	EFHD1	intron	0.948	1.00260	0.0113	0.8146		7
rs10933403	2:233528958	T/C	EFHD1	intron	0.741	1.01035	0.0165	0.5341		6
rs10933404	2:233531234	T/C	EFHD1	intron	0.946	1.00411	0.0115	0.7235		7
rs10933405	2:233534676	A/G	EFHD1	intron	1.000	1.00190	0.0109	0.8586		7
rs1107504	2:233498790	T/G	EFHD1	intron	0.890	1.01349	0.0202	0.5066		5
rs1107505	2:233498938	T/G	EFHD1	intron	0.886	1.00894	0.0204	0.6632		5
rs111269685	2:233477932	A/G	EFHD1	intron	0.816	1.01066	0.0197	0.5926		6
rs111286152	2:233519167	T/G	EFHD1	intron	0.866	1.01877	0.0220	0.3972		6
rs111709726	2:233481689	T/G	EFHD1	intron	0.837	0.98629	0.0271	0.6119		7
rs111829140	2:233538819	A/G	EFHD1	intron	0.944	1.02224	0.0261	0.3985		7
rs112089070	2:233497962	T/G	EFHD1	intron,near-gene-5	0.838	0.99491	0.0275	0.8527		4
rs112428731	2:233511596	A/G	EFHD1	intron	0.676	0.96175	0.0462	0.3975		4
rs112445216	2:233509285	T/C	EFHD1	intron	0.898	0.97648	0.0240	0.3211		7
rs112941683	2:233498506	T/C	EFHD1	intron,missense	0.798	1.00421	0.0257	0.8705		4
rs113305302	2:233503678	A/G	EFHD1	intron	0.846	0.99035	0.0292	0.7385		5
rs113460456	2:233484971	A/G	EFHD1	intron	0.829	0.99392	0.0122	0.6166		7
rs113556502	2:233496048	T/C	EFHD1	intron	0.840	0.99501	0.0274	0.8557		7
rs113591438	2:233482186	T/C	EFHD1	intron	0.837	0.98916	0.0270	0.6862		7
rs113861287	2:233492810	A/G	EFHD1	intron	0.840	0.99412	0.0272	0.8275		7
rs114195831	2:233535015	A/G	EFHD1	intron	0.922	1.04050	0.0294	0.1764		6
rs114662139	2:233532423	T/C	EFHD1	intron	0.917	0.96002	0.0291	0.161		6
rs114669616	2:233541118	A/G	EFHD1	intron	0.893	0.99840	0.0328	0.9615		6
rs115610051	2:233528239	A/G	EFHD1	intron	0.870	0.96532	0.0296	0.2326		6
rs115686027	2:233536623	T/C	EFHD1	intron	0.901	0.95916	0.0288	0.1481		7
rs115735486	2:233547639	A/G	EFHD1	near-gene-3	0.700	0.92589	0.0497	0.1212		7
rs115903037	2:233511427	A/G	EFHD1	intron	0.802	1.00803	0.0168	0.6326		6
rs116272287	2:233538868	T/C	EFHD1	intron	0.923	0.95954	0.0291	0.1554		7
rs116410312	2:233538687	T/C	EFHD1	intron	0.924	1.04216	0.0291	0.1553		6
rs11683367	2:233510011	T/C	EFHD1	intron	0.979	0.98718	0.0108	0.2354		5
rs11691950	2:233495886	A/G	EFHD1	intron	0.931	0.98157	0.0115	0.1047		7
rs117657274	2:233544225	C/G	EFHD1	intron	0.916	1.03334	0.0295	0.2667		5
rs11902420	2:233496975	A/C	EFHD1	intron,near-gene-5	0.913	1.01096	0.0202	0.5908		5
rs12233030	2:233545009	A/G	EFHD1	intron	0.913	0.96744	0.0296	0.2631		7
rs12233103	2:233545172	T/C	EFHD1	intron	0.912	1.03345	0.0296	0.2654		6
rs12233217	2:233544962	A/G	EFHD1	intron	0.958	0.99730	0.0124	0.8298		7
rs12328052	2:233523075	A/G	EFHD1	intron	0.963	1.00632	0.0110	0.5654		2b
rs12465169	2:233489736	T/C	EFHD1	intron	0.981	1.02409	0.0128	0.06229		5
rs12467052	2:233507261	A/G	EFHD1	intron	0.985	0.98857	0.0107	0.2813		7
rs12469410	2:233489731	T/C	EFHD1	intron	0.985	0.97785	0.0127	0.07784		5
rs12479105	2:233488105	T/C	EFHD1	intron	0.978	1.02153	0.0127	0.09476		7
rs12694909	2:233487473	T/C	EFHD1	intron	0.982	0.97804	0.0127	0.08115		7
rs12694910	2:233512126	C/G	EFHD1	intron	0.983	0.98551	0.0107	0.1724		5
rs12694911	2:233520942	T/C	EFHD1	intron	0.994	1.00692	0.0106	0.515		5
rs12694912	2:233528515	A/G	EFHD1	intron	0.953	0.99223	0.0111	0.4832		7
rs12694913	2:233529900	T/G	EFHD1	intron	0.958	0.99820	0.0110	0.8708		7
rs12987358	2:233494792	T/G	EFHD1	intron	0.919	0.98511	0.0229	0.5121		6
rs13003774	2:233493693	A/G	EFHD1	intron	0.811	1.00371	0.0357	0.9185		2b
rs13003805	2:233493739	A/G	EFHD1	intron	0.919	1.01562	0.0229	0.4977		3a
rs13008587	2:233520696	T/C	EFHD1	intron	0.927	0.98196	0.0221	0.4102		6
rs13009166	2:233537477	A/G	EFHD1	intron	0.976	1.00110	0.0114	0.9259		5
rs13019086	2:233496477	C/G	EFHD1	intron,near-gene-5	0.922	0.98728	0.0228	0.5749		6
rs13028442	2:233545544	A/C	EFHD1	intron	0.931	1.00090	0.0115	0.9389		6
rs13029754	2:233502984	A/G	EFHD1	intron	0.843	0.99651	0.0148	0.812		7
rs13384158	2:233529433	A/C	EFHD1	intron	0.953	1.00552	0.0111	0.6201		7
rs13395911	2:233520254	A/T	EFHD1	intron	0.977	1.01349	0.0109	0.2179		1d
rs13396021	2:233520379	A/G	EFHD1	intron	0.994	1.00672	0.0106	0.5302		4
rs13398679	2:233526396	A/G	EFHD1	intron	0.771	1.00391	0.0123	0.7498		7
rs13399460	2:233543889	T/C	EFHD1	intron	0.632	0.99790	0.0247	0.9313		7
rs13410380	2:233481876	A/G	EFHD1	intron	0.972	1.02183	0.0128	0.09108		7
rs13416329	2:233523617	A/G	EFHD1	intron	0.916	0.99283	0.0116	0.5356		7
rs13417300	2:233483672	A/G	EFHD1	intron	0.947	1.02337	0.0130	0.07544		7
rs13420870	2:233495568	T/C	EFHD1	intron	0.954	1.02194	0.0130	0.09499		6
rs13423701	2:233481978	T/C	EFHD1	intron	0.973	0.97844	0.0128	0.08844		6
rs13424032	2:233526097	A/G	EFHD1	intron	0.775	1.00914	0.0151	0.5492		7
rs13427580	2:233497127	T/C	EFHD1	intron,near-gene-5	0.929	0.98305	0.0114	0.134		5
rs139067983	2:233501526	T/C	EFHD1	intron	0.637	0.86988	0.0556	0.01222		-
rs139971969	2:233524997	T/C	EFHD1	intron	0.800	0.96851	0.0271	0.2381		-
rs140177627	2:233532262	A/T	EFHD1	intron	0.881	0.97844	0.0272	0.423		-
rs143994873	2:233539828	A/G	EFHD1	intron	0.923	0.96628	0.0295	0.2443		-
rs144363025	2:233502199	A/G	EFHD1	intron	0.686	1.02757	0.0281	0.332		-
rs144808774	2:233538775	T/C	EFHD1	intron	0.923	0.95964	0.0291	0.1566		-
rs145533343	2:233535056	T/C	EFHD1	intron	0.923	0.96512	0.0294	0.2274		-
rs145637826	2:233482891	A/G	EFHD1	intron	0.621	0.97103	0.0714	0.6806		-
rs145645676	2:233480584	A/G	EFHD1	intron	0.709	1.03283	0.0411	0.4315		-
rs146096867	2:233520579	T/C	EFHD1	intron	0.938	1.00391	0.0192	0.8406		-
rs147891036	2:233508141	A/G	EFHD1	intron	0.848	1.06513	0.0434	0.1463		-
rs148759332	2:233526470	A/G	EFHD1	intron	0.762	1.02276	0.0293	0.4421		-
rs150137586	2:233540813	A/G	EFHD1	intron	0.921	1.03448	0.0295	0.2502		-
rs150800548	2:233545637	A/G	EFHD1	intron	0.753	0.98679	0.0412	0.7474		-
rs16829366	2:233497097	A/G	EFHD1	intron,near-gene-5	0.700	1.02552	0.0465	0.5871		5
rs16829373	2:233514309	A/G	EFHD1	intron	0.911	1.02245	0.0229	0.3331		5
rs16829377	2:233515747	C/G	EFHD1	intron	0.917	0.98285	0.0213	0.4156		7
rs16829401	2:233538392	T/G	EFHD1	intron	0.924	0.96233	0.0294	0.1906		7
rs17297115	2:233510979	T/C	EFHD1	intron	0.982	1.01379	0.0112	0.2222		5
rs17297626	2:233537714	A/G	EFHD1	intron	0.954	1.01603	0.0133	0.2328		4
rs17297675	2:233538084	C/G	EFHD1	intron	0.712	0.96967	0.0344	0.3702		5
rs17297702	2:233538300	T/C	EFHD1	intron	0.952	0.98778	0.0131	0.3481		6
rs17362605	2:233487381	T/C	EFHD1	intron	0.898	0.98748	0.0115	0.2733		7
rs17362914	2:233510906	T/C	EFHD1	intron	0.978	0.98787	0.0112	0.276		5
rs182322115	2:233532266	A/T	EFHD1	intron	0.602	0.93651	0.0598	0.273		-
rs1969448	2:233533531	A/G	EFHD1	intron	0.991	0.99422	0.0109	0.5922		7
rs2091250	2:233490999	T/C	EFHD1	intron	0.939	0.99870	0.0119	0.916		7
rs2140773	2:233513175	A/C	EFHD1	intron	0.975	0.98807	0.0109	0.2683		5
rs2276557	2:233498669	T/G	EFHD1	coding-synon,intron	0.944	1.01725	0.0130	0.1882		5
rs2344363	2:233487125	A/G	EFHD1	intron	0.972	1.02265	0.0127	0.07812		5
rs2344364	2:233487135	T/C	EFHD1	intron	0.976	0.97883	0.0128	0.09341		5
rs2344365	2:233487325	T/G	EFHD1	intron	0.982	0.97746	0.0127	0.0734		6
rs2344369	2:233490451	T/C	EFHD1	intron	0.986	0.97697	0.0127	0.06661		7
rs34021419	2:233482178	T/C	EFHD1	intron	0.973	1.02224	0.0128	0.08456		7
rs34247311	2:233532258	A/T	EFHD1	intron	0.692	0.99114	0.0198	0.6535		6
rs34384799	2:233484101	A/G	EFHD1	intron	0.910	0.98689	0.0231	0.5677		7
rs34472888	2:233517786	T/C	EFHD1	intron	0.927	1.01826	0.0221	0.4134		7
rs34563978	2:233487879	T/C	EFHD1	intron	0.982	1.02245	0.0127	0.08122		7
rs35006349	2:233486311	T/C	EFHD1	intron	0.980	1.02245	0.0127	0.08103		6
rs35293211	2:233522030	T/C	EFHD1	intron	0.921	0.98196	0.0221	0.4114		7
rs35613670	2:233492416	C/G	EFHD1	intron	0.921	0.98699	0.0229	0.567		6
rs35798031	2:233486388	C/G	EFHD1	intron	0.980	0.97951	0.0128	0.1043		6
rs35991886	2:233495974	T/C	EFHD1	intron	0.953	1.02122	0.0130	0.1064		7
rs4072149	2:233508677	T/C	EFHD1	intron	0.986	1.01826	0.0107	0.09048		5
rs4378795	2:233499790	A/G	EFHD1	intron	0.930	0.98797	0.0111	0.2778		5
rs4465759	2:233487195	C/G	EFHD1	intron	0.981	1.02224	0.0127	0.08336		5
rs4488653	2:233505908	T/C	EFHD1	intron	0.979	1.01197	0.0107	0.2667		6
rs4524114	2:233488577	A/C	EFHD1	intron	0.691	0.98718	0.0441	0.7703		5
rs4528745	2:233505522	T/C	EFHD1	intron	0.977	0.98955	0.0112	0.3488		5
rs4973048	2:233485860	C/G	EFHD1	intron	0.717	1.02511	0.0465	0.5935		5
rs4973049	2:233513966	A/G	EFHD1	intron	0.920	1.02092	0.0223	0.3521		5
rs4973546	2:233481251	T/C	EFHD1	intron	0.917	0.98236	0.0123	0.1474		7
rs4973550	2:233517701	T/G	EFHD1	intron	0.967	0.98768	0.0109	0.2556		6
rs4973551	2:233518198	A/G	EFHD1	intron	0.927	0.98206	0.0221	0.4114		6
rs4973552	2:233521627	T/C	EFHD1	intron	0.923	1.01745	0.0222	0.436		7
rs4973554	2:233528587	T/G	EFHD1	intron	0.891	0.99193	0.0136	0.5503		7
rs4973555	2:233541255	A/G	EFHD1	intron	0.974	1.00280	0.0119	0.8155		6
rs4997379	2:233490355	A/G	EFHD1	intron	0.986	1.02316	0.0127	0.07182		7
rs58808550	2:233486779	A/G	EFHD1	intron	0.981	1.02235	0.0127	0.08201		5
rs59035839	2:233486823	T/G	EFHD1	intron	0.981	1.02235	0.0127	0.08208		5
rs59200588	2:233486817	T/C	EFHD1	intron	0.981	1.02235	0.0127	0.08213		5
rs60101330	2:233542481	C/G	EFHD1	intron	0.918	1.03241	0.0295	0.2794		6
rs61350459	2:233540374	T/G	EFHD1	intron	0.922	0.96657	0.0295	0.248		7
rs61443084	2:233542508	A/C	EFHD1	intron	0.919	1.03376	0.0295	0.2602		7
rs61613778	2:233541076	A/G	EFHD1	intron	0.921	0.96686	0.0295	0.2524		6
rs62191602	2:233478467	T/C	EFHD1	intron	0.925	0.99074	0.0121	0.4409		5
rs62191608	2:233483218	A/G	EFHD1	intron	0.974	1.02224	0.0128	0.08494		7
rs62191632	2:233488244	T/C	EFHD1	intron	0.972	0.97638	0.0128	0.06192		7
rs62191633	2:233488298	T/C	EFHD1	intron	0.937	0.98020	0.0114	0.08083		7
rs62191639	2:233518734	T/G	EFHD1	intron	0.984	1.00642	0.0107	0.552		7
rs66476711	2:233493938	A/G	EFHD1	intron	0.920	1.01491	0.0229	0.5184		7
rs66590980	2:233498399	T/C	EFHD1	intron,untranslated-5	0.895	1.01501	0.0224	0.5055		4
rs6710991	2:233509234	A/T	EFHD1	intron	0.630	1.01694	0.0285	0.5572		6
rs6741190	2:233506299	A/G	EFHD1	intron	0.983	0.98916	0.0107	0.3082		5
rs6752086	2:233505277	A/T	EFHD1	intron	0.978	0.98797	0.0108	0.2606		7
rs71421653	2:233497907	A/G	EFHD1	intron,near-gene-5	0.895	1.01572	0.0227	0.491		2a
rs7286	2:233546985	T/C	EFHD1	untranslated-3	0.993	0.99780	0.0119	0.853		7
rs72999770	2:233495366	A/G	EFHD1	intron	0.698	1.01066	0.0404	0.7936		7
rs73001714	2:233526870	A/G	EFHD1	intron	0.741	0.95323	0.0510	0.3475		6
rs73105431	2:233488263	A/G	EFHD1	intron	0.980	0.97785	0.0127	0.0792		6
rs73995827	2:233488969	C/G	EFHD1	intron	0.693	0.98098	0.0447	0.6674		2b
rs73995853	2:233515954	T/G	EFHD1	intron	0.894	0.97834	0.0235	0.3513		6
rs73995854	2:233523484	T/C	EFHD1	intron	0.852	1.03097	0.0247	0.2173		6
rs74698483	2:233484946	A/C	EFHD1	intron	0.714	0.97249	0.0465	0.548		6
rs74776078	2:233544462	A/G	EFHD1	intron	0.914	0.96831	0.0296	0.2757		6
rs74820160	2:233544464	T/C	EFHD1	intron	0.915	1.03345	0.0296	0.2661		6
rs74874120	2:233496718	A/T	EFHD1	intron,near-gene-5	0.705	0.97687	0.0465	0.615		6
rs75410203	2:233478083	A/G	EFHD1	intron	0.871	0.99452	0.0221	0.8026		7
rs7570004	2:233540909	T/C	EFHD1	intron	0.967	0.99362	0.0108	0.5537		7
rs75866454	2:233531564	T/C	EFHD1	intron	0.917	0.96541	0.0294	0.2319		7
rs7589030	2:233532254	A/T	EFHD1	intron	0.637	0.98138	0.0136	0.1662		6
rs76032109	2:233543128	C/G	EFHD1	intron	0.918	0.96764	0.0295	0.2645		7
rs7604307	2:233543337	A/C	EFHD1	intron	0.800	1.01552	0.0135	0.2536		6
rs76043095	2:233477349	A/T	EFHD1	intron	0.869	1.00562	0.0222	0.801		7
rs76146026	2:233528456	T/C	EFHD1	intron	0.872	1.03967	0.0295	0.1876		7
rs76229300	2:233531552	T/C	EFHD1	intron	0.917	1.03583	0.0294	0.2324		6
rs76948518	2:233493743	T/C	EFHD1	intron	0.840	0.99422	0.0272	0.8305		4
rs76999109	2:233541791	A/G	EFHD1	intron	0.915	1.04823	0.0290	0.1051		6
rs77513997	2:233543682	T/C	EFHD1	intron	0.918	0.96773	0.0295	0.2671		5
rs77962348	2:233535286	T/C	EFHD1	intron	0.923	0.96522	0.0294	0.2284		5
rs78303320	2:233484296	A/G	EFHD1	intron	0.833	0.99124	0.0232	0.7034		7
rs78590548	2:233539580	A/G	EFHD1	intron	0.922	1.03977	0.0294	0.1846		7
rs78689171	2:233491307	T/C	EFHD1	intron	0.922	1.01349	0.0230	0.5585		7
rs78728347	2:233501867	T/C	EFHD1	intron	0.850	0.99342	0.0277	0.8108		4
rs79385064	2:233493380	A/C	EFHD1	intron	0.759	1.00000	0.0180	0.9997		5
rs79411920	2:233481546	T/G	EFHD1	intron	0.683	0.98886	0.0455	0.8051		7
rs79998332	2:233543689	T/C	EFHD1	intron	0.918	1.03334	0.0295	0.2671		5
rs867838	2:233530570	T/C	EFHD1	intron	0.968	1.00070	0.0109	0.9494		7
rs871687	2:233489343	A/G	EFHD1	intron	0.948	0.97883	0.0120	0.07407		4
rs871688	2:233489529	A/G	EFHD1	intron	0.962	1.02429	0.0119	0.04284		5
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