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

SNP Report

Basic Info
Name rs5522 dbSNP Ensembl
Location chr4:149357475(Fwd)
Variant Alleles C/T
Ancestral Allele T
Functional Annotation missense_variant; NMD_transcript_variant.
Polyphen Annotation: benign(ENST00000342437; ENST00000344721; ENST00000355292; ENST00000358102; ENST00000511528; ENST00000512865; ENST00000342437)
SIFT Annotation: tolerated(ENST00000342437; ENST00000344721; ENST00000355292; ENST00000358102; ENST00000511528; ENST00000512865; ENST00000342437)
Consequence to Transcript missense_variant(ENST00000342437; ENST00000344721; ENST00000355292; ENST00000358102; ENST00000511528; ENST00000512865)
NMD_transcript_variant(ENST00000342437)
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
Kortmann, G. L., 2012 Ile/Val allelic P-value=0.117, X2=2.46; genotypic P-value...... allelic P-value=0.117, X2=2.46; genotypic P-value=0.258, X2=2.71 More... Patients and controls did not differ in allele and genotype ...... Patients and controls did not differ in allele and genotype frequencies, using different genetic models. More... Non-significant

SNP related genes (count: 1)

Literature-origin genes (count: 1)

Genes from other sources Help (count: 0)


SNPs in LD with rs5522 (count: 12) View in gBrowse (chr4:149352962..149387520 )
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: 12)