AutismKB 2.0

View SNVs/InDels


Entrez ID Gene Symbol SNP name Chr Position ref alt Evidence Number Total Number of Evidence Result
GWAS Low-Scale Genetic Association Studies NGS de novo Mutation Studies NGS Mosaic Mutation Studes NGS Other Studies Low-Scale Gene Studies
AutG2272FHIT - 3 59577907 TTTTTTT - 0 0 0 0 1 0 1
AutG2272FHIT - 3 59577908 TTTTTTTT - 0 0 0 0 1 0 1
AutG166336PRICKLE2 - 3 64084843 G A 0 0 0 0 1 0 1
AutG101927111SUCLG2-AS1 - 3 67948172 A G 0 0 0 0 1 0 1
AutG101927111SUCLG2-AS1 - 3 67948364 G A 0 0 0 0 1 0 1
AutG407738FAM19A1 - 3 68193136 T - 0 0 0 0 1 0 1
AutG407738FAM19A1 - 3 68193147 - T 0 0 0 0 1 0 1
AutGLINC01212 - 3 70299736 T A 0 0 0 0 1 0 1
AutGLINC01212 - 3 70351851 C G 0 0 0 0 1 0 1
AutGLINC01212 - 3 70351995 C T 0 0 0 0 1 0 1
AutGLINC01212 - 3 70779145 TTAAG - 0 0 0 0 1 0 1
AutG27086FOXP1 - 3 71102908 G C 0 0 0 0 1 0 1 Positive
AutG5067CNTN3 - 3 74420458 T A 0 0 0 0 1 0 1 Positive
AutG100131827ZNF717 - 3 76414921 T C 0 0 0 0 1 0 1
AutG100131827ZNF717 - 3 77036314 T A 0 0 0 0 1 0 1
AutG5449POU1F1 - 3 87606966 - T 0 0 0 0 1 0 1
AutG9901SRGAP3 - 3 9036106 C T 0 0 0 0 1 0 1 Positive
AutG131566DCBLD2 - 3 98600385 T C 0 0 0 0 1 0 1
AutG100313938MIR548G - 3 99600236 C A 0 0 0 0 1 0 1
AutG1062CENPE - 4 104080217 A C 0 0 0 0 1 0 1

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018