TBX1

Basic Information

Gene Symbol	TBX1
Entrez Id	6899
Position	chr22:19744226..19771116
Description	T-box 1
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs117152059	22:19765631	A/G	TBX1	intron	0.721	0.96310	0.0368	0.3068		7
rs12165908	22:19765181	C/G	TBX1	intron	0.924	0.99511	0.0144	0.7336		7
rs12484920	22:19769668	C/G	TBX1	intron	0.943	0.99322	0.0140	0.6284		7
rs13054377	22:19753961	A/G	TBX1	coding-synon,intron	0.737	0.99790	0.0216	0.9216		5
rs13054463	22:19761856	A/C	TBX1	intron	0.855	1.00421	0.0239	0.8589		5
rs13054502	22:19761912	A/G	TBX1	intron	0.857	1.00531	0.0239	0.8233		3a
rs13055384	22:19762677	T/C	TBX1	intron	0.859	0.99690	0.0241	0.8985		7
rs13055776	22:19770707	T/C	TBX1	intron	0.890	0.98669	0.0241	0.5774		5
rs191163920	22:19748177	T/G	TBX1	intron	0.635	1.03769	0.0212	0.08094		-
rs193166736	22:19748212	C/G	TBX1	intron	0.623	1.02870	0.0270	0.2959		-
rs1978060	22:19749525	A/G	TBX1	intron	0.867	1.00995	0.0116	0.391		3a
rs2238773	22:19752973	T/C	TBX1	intron	0.883	0.98413	0.0137	0.2435		2b
rs2238774	22:19757339	T/C	TBX1	intron	0.909	0.98955	0.0111	0.3438		5
rs2238775	22:19757372	A/G	TBX1	intron	0.908	1.01066	0.0111	0.3403		5
rs2238776	22:19757892	A/G	TBX1	intron	0.902	0.98501	0.0135	0.2645		5
rs2238777	22:19758228	A/G	TBX1	intron	0.908	0.98797	0.0111	0.2736		5
rs2238778	22:19758399	T/G	TBX1	intron	0.909	0.98926	0.0111	0.3285		5
rs2238779	22:19761025	T/C	TBX1	intron	0.923	0.96300	0.0138	0.006213		4
rs2301558	22:19751829	T/C	TBX1	coding-synon	0.931	1.02521	0.0130	0.0548		4
rs34168539	22:19761287	A/G	TBX1	intron	0.856	0.99601	0.0239	0.8671		5
rs34188008	22:19757936	T/C	TBX1	intron	0.864	0.99970	0.0246	0.9897		5
rs34331122	22:19762428	D/I3	TBX1	intron	0.902	0.98030	0.0112	0.07401		-
rs34674590	22:19761804	T/C	TBX1	intron	0.844	0.99930	0.0220	0.9748		5
rs35072922	22:19755413	A/G	TBX1	intron	0.859	0.99810	0.0240	0.9384		2b
rs35412170	22:19761387	T/G	TBX1	intron	0.847	1.00090	0.0220	0.9672		5
rs35973679	22:19757572	A/G	TBX1	intron	0.907	1.01076	0.0111	0.3368		5
rs41260844	22:19743424	T/C	TBX1	near-gene-5	0.809	1.00833	0.0125	0.5096		4
rs41297780	22:19761511	A/G	TBX1	intron	0.789	1.06301	0.0586	0.2969		5
rs41297790	22:19762112	A/G	TBX1	intron	0.743	1.01400	0.0529	0.7922		7
rs41297802	22:19762506	A/G	TBX1	intron	0.910	0.99253	0.0143	0.6029		7
rs41297812	22:19763595	T/C	TBX1	intron	0.770	1.03365	0.0539	0.539		4
rs41297816	22:19763978	A/G	TBX1	intron	0.887	0.95466	0.0133	0.0004591		4
rs41297826	22:19764505	T/C	TBX1	intron	0.757	1.06003	0.0603	0.3333		4
rs41297832	22:19764608	I5/D	TBX1	intron	0.910	1.02470	0.0114	0.03291		-
rs41297836	22:19765221	A/G	TBX1	intron	0.743	0.98541	0.0568	0.7962		7
rs41297838	22:19765443	T/C	TBX1	intron	0.930	0.99372	0.0144	0.66		7
rs41297840	22:19765491	T/C	TBX1	intron	0.762	1.05993	0.0599	0.331		7
rs41297992	22:19766044	A/G	TBX1	intron	0.729	1.00010	0.0542	0.9982		7
rs41297994	22:19766107	A/G	TBX1	intron	0.917	0.99541	0.0142	0.7448		7
rs41297996	22:19766248	A/G	TBX1	intron	0.934	0.99293	0.0142	0.6182		7
rs41298000	22:19766271	A/G	TBX1	intron	0.750	0.98817	0.0563	0.8328		6
rs41298008	22:19766954	C/G	TBX1	intron,untranslated-3	0.756	0.98295	0.0546	0.7524		5
rs41298028	22:19768337	A/G	TBX1	intron	0.932	0.99641	0.0142	0.8011		5
rs41298615	22:19742522	T/C	TBX1	near-gene-5	0.747	1.07756	0.0540	0.1663		4
rs41298629	22:19743473	T/C	TBX1	near-gene-5	0.729	1.05454	0.0531	0.3177		4
rs41298650	22:19765871	A/G	TBX1	intron	0.764	1.05929	0.0597	0.3354		7
rs41298652	22:19765934	A/C	TBX1	intron	0.755	0.97971	0.0534	0.7013		7
rs41298654	22:19765988	A/G	TBX1	intron	0.991	1.04154	0.0137	0.002886		7
rs41298790	22:19747486	T/G	TBX1	intron	0.749	1.07907	0.0536	0.1558		2b
rs41298792	22:19747487	A/G	TBX1	intron	0.751	1.07659	0.0537	0.1697		2b
rs41298794	22:19747560	C/G	TBX1	intron	0.749	1.07907	0.0536	0.1561		3a
rs41298798	22:19749508	C/G	TBX1	intron	0.761	0.95266	0.0533	0.3629		4
rs41298804	22:19749725	T/G	TBX1	intron	0.761	1.04959	0.0533	0.3647		4
rs41298812	22:19750471	T/C	TBX1	intron	0.779	1.05001	0.0540	0.3663		4
rs41298814	22:19750773	T/C	TBX1	coding-synon	0.875	1.01400	0.0135	0.3009		4
rs41298818	22:19751065	T/C	TBX1	intron	0.784	0.93090	0.0487	0.1413		4
rs41298826	22:19752007	T/C	TBX1	intron	0.881	1.01410	0.0134	0.2985		5
rs41298830	22:19752943	A/C	TBX1	intron	0.878	1.01349	0.0133	0.3145		4
rs41298832	22:19753009	T/C	TBX1	intron	0.763	0.95380	0.0532	0.3736		2b
rs41298836	22:19753379	T/C	TBX1	intron	0.859	1.00210	0.0241	0.9319		4
rs41298840	22:19753449	A/G	TBX1	coding-synon	0.849	1.01908	0.0140	0.179		4
rs41298842	22:19754554	I2/D	TBX1	intron,untranslated-3	0.731	1.03087	0.0520	0.5596		-
rs41298844	22:19769498	D/I17	TBX1	intron	0.925	0.98679	0.0112	0.2325		-
rs41299348	22:19755006	T/C	TBX1	intron,near-gene-3	0.671	1.02204	0.0497	0.6615		5
rs41299360	22:19755639	C/G	TBX1	intron	0.753	0.95705	0.0530	0.4071		4
rs41299445	22:19744840	C/G	TBX1	intron,near-gene-5	0.791	0.99293	0.0145	0.6217		2b
rs41299449	22:19745318	A/G	TBX1	intron,near-gene-5	0.749	1.07691	0.0539	0.1691		5
rs41299451	22:19745891	T/G	TBX1	intron,near-gene-5	0.793	0.97171	0.0299	0.3375		5
rs41299455	22:19746354	A/G	TBX1	intron,untranslated-5	0.672	0.96831	0.0428	0.4523		5
rs41299934	22:19757384	T/C	TBX1	intron	0.930	0.96618	0.0141	0.015		5
rs41300444	22:19758770	A/G	TBX1	intron	0.767	0.96156	0.0536	0.4646		5
rs41300472	22:19760306	T/C	TBX1	intron	0.766	0.95533	0.0538	0.3955		4
rs41300478	22:19760628	A/G	TBX1	intron	0.713	1.02235	0.0386	0.5671		4
rs4819521	22:19765322	T/C	TBX1	intron	0.923	1.02409	0.0111	0.03159		6
rs4819522	22:19766782	T/C	TBX1	intron,missense	1.000	1.04196	0.0136	0.002496		5
rs4819843	22:19765182	A/G	TBX1	intron	0.978	1.04071	0.0136	0.003308		7
rs72646958	22:19750645	A/G	TBX1	intron	0.676	0.96783	0.0496	0.5099		4
rs72646965	22:19753829	T/C	TBX1	intron	0.676	1.03967	0.0479	0.4166		5
rs72646966	22:19753848	A/G	TBX1	intron	0.877	1.01217	0.0134	0.3663		5
rs72646967	22:19754091	A/C	TBX1	intron,missense	0.869	1.00823	0.0133	0.537		4
rs737867	22:19746903	A/T	TBX1	intron,untranslated-5	0.824	0.99830	0.0120	0.8842		4
rs80179718	22:19749178	A/G	TBX1	intron	0.747	0.95590	0.0530	0.3952		5
rs8135645	22:19763299	A/G	TBX1	intron	0.861	0.99681	0.0241	0.8948		5
rs8137465	22:19745357	T/C	TBX1	intron,near-gene-5	0.748	0.92709	0.0538	0.1589		5
rs8140965	22:19745638	A/G	TBX1	intron,near-gene-5	0.748	1.07864	0.0538	0.159		5
rs9606154	22:19745206	A/G	TBX1	intron,near-gene-5	0.802	0.98442	0.0247	0.525		5
rs9798754	22:19766137	T/C	TBX1	intron	0.901	1.02306	0.0117	0.05023		7
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