TBX6

Basic Information

Gene Symbol	TBX6
Entrez Id	6911
Position	chr16:30097114..30103205
Description	T-box 6
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs112565029	16:30102391	A/G	TBX6	intron	0.695	1.05506	0.0401	0.1812		5
rs11863083	16:30100789	T/C	TBX6	intron	0.918	0.93904	0.0216	0.003538		5
rs142773731	16:30101235	C/G	TBX6	intron	0.710	1.09988	0.0741	0.1992		-
rs147510745	16:30101191	T/C	TBX6	intron	0.805	1.11628	0.0495	0.02632		-
rs192847025	16:30097467	T/C	TBX6	untranslated-3	0.724	0.94971	0.0447	0.2481		-
rs2289292	16:30097630	T/C	TBX6	coding-synon	0.902	1.05295	0.0117	0.0000103		5
rs3809624	16:30102802	T/C	TBX6	intron	0.900	0.95123	0.0118	0.00002174		5
rs3809627	16:30103160	A/C	TBX6	intron,near-gene-3,untranslated-5	0.936	1.03107	0.0110	0.005345		4
rs8060511	16:30101596	A/C	TBX6	intron	0.958	0.96628	0.0108	0.001487		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
19855392	Regional	4551 cases; 6391 controls
20489179	GWAS	977 cases; 2000 controls
Reference	Study type	Sample size

eQTL Information