ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

SNP Report

Basic Info
Name rs1397548 dbSNP Ensembl
Location chr4:62845490(Fwd)
Variant Alleles A/G
Ancestral Allele A
Functional Annotation splice_region_variant; synonymous_variant.
Consequence to Transcript splice_region_variant(ENST00000502815; ENST00000504896; ENST00000506700; ENST00000506720; ENST00000506746; ENST00000507164; ENST00000507625; ENST00000508693; ENST00000508946; ENST00000509896; ENST00000511324; ENST00000512091; ENST00000514157; ENST00000514591; ENST00000514996; ENST00000545650)
synonymous_variant(ENST00000502815; ENST00000504896; ENST00000506700; ENST00000506720; ENST00000506746; ENST00000507164; ENST00000507625; ENST00000508693; ENST00000508946; ENST00000509896; ENST00000511324; ENST00000512091; ENST00000514157; ENST00000514591; ENST00000514996; ENST00000545650)
No. of Studies 2 (significant: 0; non-significant: 0; trend: 2)
Source Literature-origin

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result of Statistical Analysis
Domene S, 2011 c.2811A>G ObsHET/PredHET=0.466/0.456 ObsHET/PredHET=0.466/0.456 neither susceptibility nor protective haplotype alleles are ...... neither susceptibility nor protective haplotype alleles are associated with obviously significant coding region changes, or canonical splice site alterations More... Trend
Arcos-Burgos M, 2010 G>A mutation, no p-value mutation, no p-value in the haplotype block associated with ADHD and located at ...... in the haplotype block associated with ADHD and located at splice sites, potential significance for the expression profile of LPHN3 More... Trend

SNP related genes (count: 0)

SNPs in LD with rs1397548 (count: 11) View in gBrowse (chr4:62779822..62845490 )
The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r2>=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 11)