ADHDgene Database

SNP Report

Basic Info

Name	rs2280934 dbSNP Ensembl
Location	Chr8:23106665(Fwd)
Variant Alleles	A/G
Ancestral Allele	A
Functional Annotation	NMD_transcript_variant; intron_variant; nc_transcript_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000519503; ENST00000517325; ENST00000519414) intron_variant(ENST00000519503; ENST00000313219; ENST00000519529; ENST00000517325; ENST00000397677; ENST00000519984; ENST00000519414) nc_transcript_variant(ENST00000519529)
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)	A:G		P-value=1.33E-05 P-value=1.33E-05	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 rs2280934 (count: 9) View in gBrowse (chr8:23096594..23112662 )

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]

rs7463256	intron_variant; upstream_gene_variant	1(0/0/1)	0.835[ASW]; 0.92[CEU]; 1.0[CHB]; 0.894[CHD]; 1.0[JPT]; 0.917[MEX]; 0.87[TSI]; 1.0[YRI]
rs11135712	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)	0.918[CEU]; 0.939[CHB]; 0.844[CHD]; 0.904[JPT]
rs2294123	5_prime_UTR_variant; NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant	1(0/0/1)	0.835[ASW]; 0.92[CEU]; 1.0[CHB]; 0.868[CHD]; 1.0[JPT]; 0.87[MEX]; 0.869[TSI]; 0.88[YRI]
rs13268919	upstream_gene_variant	1(0/0/1)	0.943[CHB]; 0.894[CHD]; 0.906[JPT]; 1.0[LWK]; 0.945[MKK]; 1.0[YRI]

rs_ID	Functional Annotation	r²[population]
rs12542630	intron_variant; upstream_gene_variant	0.92[CEU]; 1.0[CHB]; 1.0[JPT]; 1.0[YRI]
rs7459962	intron_variant; upstream_gene_variant	0.92[CEU]; 1.0[CHB]; 1.0[JPT]; 1.0[YRI]
rs12544038	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.821[CHD]; 1.0[JPT]
rs3736025	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.886[GIH]
rs12544554	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.919[CEU]; 1.0[CHB]; 1.0[JPT]; 1.0[YRI]