ADHDgene Database

SNP Report

Basic Info

Name	rs2070762 dbSNP Ensembl
Location	chr11:2186335(Fwd)
Variant Alleles	A/G
Ancestral Allele	A
Functional Annotation	downstream_gene_variant; intron_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000324155; ENST00000381168; ENST00000412076; ENST00000416223; ENST00000461172; ENST00000469226; ENST00000479437) intron_variant(ENST00000333684; ENST00000352909; ENST00000381175; ENST00000381178) upstream_gene_variant(ENST00000250971; ENST00000356578; ENST00000381330; ENST00000397262; ENST00000397270; ENST00000421783; ENST00000512523)
No. of Studies	2 (significant: 1; non-significant: 1; trend: 0)
Source	Literature-origin

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Ribases, M., 2012			children: genotypic P-value=0.062, genotype 11 vs 12+22: P-v...... children: genotypic P-value=0.062, genotype 11 vs 12+22: P-value=0.16, OR (95% CI)=-; genotype 11 +12 vs. 22: P-value=0.024, OR (95% CI)=1.65(1.06-2.55); allelic P-value=0.033, OR (95% CI)=1.28(1.02-1.59); adults: genotypic P-value=0.044, genotype 11 vs 12+22: P-value=0.09, OR (95% CI)=-; genotype 11 +12 vs. 22: P-value=0.24, OR (95% CI)=-; allelic P-value=0.55, OR (95% CI)=- More...	In the single-marker analysis the comparison of genotype fre...... In the single-marker analysis the comparison of genotype frequencies under a codominant model and allele frequencies showed nominal association between rs2070762 in the TH gene and both childhood and adulthood ADHD. More...	Significant
Nyman ES, 2007			No available information. No available information.	No evidence of association was seen. No evidence of association was seen.	Non-significant

SNP related genes (count: 3)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
TH	tyrosine hydroxylase	11p15.5	7(2/5/0)

Approved Symbol	Approved Name	Location
INS-IGF2	INS-IGF2 readthrough	11p15.5
INS	insulin	11p15.5

SNPs in LD with rs2070762 (count: 3) View in gBrowse (chr11:2171601..2190519 )

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]
rs7924316	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.81[JPT]
rs4320932	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.855[CHD]
rs7483056	intron_variant; NMD_transcript_variant; upstream_gene_variant	0.824[TSI]