ADHDgene Database

SNP Report

Basic Info

Name	rs11135712 dbSNP Ensembl
Location	Chr8:23110503(Fwd)
Variant Alleles	C/T
Ancestral Allele	C
Functional Annotation	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000519503; ENST00000517325; ENST00000519414) intron_variant(ENST00000519529; ENST00000519984; ENST00000519503; ENST00000517325; ENST00000313219; ENST00000519414; ENST00000397677) nc_transcript_variant(ENST00000519529) upstream_gene_variant(ENST00000520102; ENST00000523091)
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Neale BM, 2010 (a)	T:C		P-value=4.77E-06 P-value=4.77E-06	one of top 50 hits from the Genome-Wide Attention-Deficit/Hy...... one of top 50 hits from the Genome-Wide Attention-Deficit/Hyperactivity Disorder (ADHD) meta-analysis More...	Trend

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
CHMP7	CHMP family, member 7	8p21.2	1(0/0/1)

SNPs in LD with rs11135712 (count: 9) View in gBrowse (chr8:23096594..23122100 )

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	#studies(significant/non-significant/trend)	r²[population]

rs2294123	5_prime_UTR_variant; NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant	1(0/0/1)	1.0[CEU]; 0.939[CHB]; 0.847[CHD]; 0.849[GIH]; 0.904[JPT]
rs7463256	intron_variant; upstream_gene_variant	1(0/0/1)	1.0[CEU]; 0.939[CHB]; 0.872[CHD]; 0.849[GIH]; 0.904[JPT]
rs13268919	upstream_gene_variant	1(0/0/1)	0.802[CEU]; 0.884[CHB]; 0.872[CHD]; 0.826[GIH]; 0.811[JPT]
rs2280934	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(0/0/1)	0.918[CEU]; 0.939[CHB]; 0.844[CHD]; 0.904[JPT]

rs_ID	Functional Annotation	r²[population]
rs12542630	intron_variant; upstream_gene_variant	1.0[CEU]; 0.939[CHB]; 0.898[JPT]
rs7459962	intron_variant; upstream_gene_variant	1.0[CEU]; 0.932[CHB]; 0.9[JPT]
rs12544038	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.833[CHB]; 0.849[CHD]; 0.904[JPT]
rs13255552	downstream_gene_variant	0.833[CHB]; 0.822[CHD]
rs12544554	NMD_transcript_variant; intron_variant; nc_transcript_variant	1.0[CEU]; 0.938[CHB]; 0.901[JPT]