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

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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
SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*

Showing 1 to 10 of 166 entries

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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