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

SNP Report

Basic Info
Name rs1013940 dbSNP Ensembl
Location chr2:108608648(Fwd)
Variant Alleles A/G
Ancestral Allele A
Functional Annotation 5_prime_UTR_variant; missense_variant.
Polyphen Annotation: benign(ENST00000264047; ENST00000409059)
SIFT Annotation: tolerated(ENST00000264047; ENST00000409059)
Consequence to Transcript 5_prime_UTR_variant(ENST00000540517)
missense_variant(ENST00000264047; ENST00000409059)
No. of Studies 1 (significant: 1; non-significant: 0; trend: 0)
Source Literature-origin

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result of Statistical Analysis
English BA, 2009 A/G Case-control allelic test: global P-value=0.023, P-value=0.0...... Case-control allelic test: global P-value=0.023, P-value=0.03 for Inattentive Caucasian group, P-value=0.02 for Inattentive Caucasian-male group, P-value=0.03 for Combined Caucasian group, P-value=0.03 for Combined Caucasian-male group; family-based allelic test TDT: one-tailed P-value=0.014 (R2=0.09, OR=3.16) under additive model, one-tailed P-value=0.024 (R2=0.07, OR=2.79) under dominant model when Combined subtype was contrasted with no diagnosis and all other subtypes. More... A 2-3 fold elevation of the Val89 allele relative to healthy...... A 2-3 fold elevation of the Val89 allele relative to healthy controls was found. Significant overtransmission of the Val89 variant to children with a Combined subtype diagnosis with an increased Odds Ratio for a haplotype comprising both minor alleles were found. More... Significant

SNP related genes (count: 1)

Literature-origin genes (count: 1)

Genes from other sources Help (count: 0)

SNPs in LD with rs1013940 (count: 4) View in gBrowse (chr2:108588292..108654188 )
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: 4)