ADHDgene Database

SNP Report

Basic Info

Name	rs2240717 dbSNP Ensembl
Location	chr22:19969106(Fwd)
Variant Alleles	A/G
Ancestral Allele	G
Functional Annotation	downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant. Polyphen Annotation: benign(ENST00000263207; ENST00000344269; ENST00000401994; ENST00000406259; ENST00000406522) SIFT Annotation: tolerated(ENST00000263207; ENST00000344269; ENST00000401994; ENST00000406259; ENST00000406522)
Consequence to Transcript	downstream_gene_variant(ENST00000467828) missense_variant(ENST00000263207; ENST00000344269; ENST00000401994; ENST00000406259; ENST00000406522) nc_transcript_variant(ENST00000462319; ENST00000473551; ENST00000487793; ENST00000492625) non_coding_exon_variant(ENST00000462319; ENST00000473551; ENST00000487793; ENST00000492625) upstream_gene_variant(ENST00000495096)
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Michaelovsky E, 2008	T/C		X²(1)=0.34 X²(1)=0.34	no significant association no significant association	Non-significant

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
ARVCF	armadillo repeat gene deleted in velocardiofacial syndrome	22q11.21	1(1/0/0)

SNPs in LD with rs2240717 (count: 13) View in gBrowse (chr22:19967980..19984013 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²>=0.8.

rs_ID	Functional Annotation	r²[population]
rs917478	intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.94[CHB]; 1.0[JPT]
rs2012714	intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.857[JPT]
rs2240716	intron_variant; nc_transcript_variant; upstream_gene_variant	0.815[CHB]; 1.0[JPT]
rs12628032	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	1.0[JPT]
rs2238786	intron_variant; nc_transcript_variant; upstream_gene_variant	0.857[JPT]
rs2238783	intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.942[CHB]; 1.0[JPT]; 1.0[YRI]
rs2238781	intron_variant; nc_transcript_variant; upstream_gene_variant	0.942[CHB]; 1.0[JPT]
rs2238784	intron_variant; nc_transcript_variant; upstream_gene_variant	0.857[JPT]
rs4819527	intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.856[JPT]; 1.0[YRI]
rs917479	intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.94[CHB]; 1.0[JPT]; 1.0[YRI]
rs756653	intron_variant; nc_transcript_variant; upstream_gene_variant	0.857[JPT]
rs1034564	intron_variant; nc_transcript_variant	0.857[JPT]
rs2238792	intron_variant; nc_transcript_variant; upstream_gene_variant	0.858[JPT]