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
rs17064931 - - - - 2 0 0 0 0 0 2 Negative
AutG2044EPHA5rs17088254 4 68191194 C C 2 0 0 0 0 0 2 Negative
AutG23008KLHDC10rs17133163 - - - - 2 0 0 0 0 0 2 Negative
rs17165849 5 97655286 G G 2 0 0 0 0 0 2 Negative
rs17265093 4 12144279 A A 2 0 0 0 0 0 2 Negative
AutG4629MYH11rs17284809 1 15822800 C C 2 0 0 0 0 0 2 Positive
AutG79811SLTMrs17302045 1 59199937 T G 2 0 0 0 0 0 2 Negative
rs17317826 5 67108133 T G 2 0 0 0 0 0 2 Negative
rs173214 1 59160188 A A 2 0 0 0 0 0 2 Negative
rs17331012 4 12144655 G A 2 0 0 0 0 0 2 Negative
rs1868011 8 105310154 G A 2 0 0 0 0 0 2 Negative
AutG1008CDH10rs1896731 5 25899020 T C 2 0 0 0 0 0 2 Positive
AutG84131CEP78rs1929402 9 80863088 G A 2 0 0 0 0 0 2 Negative
AutG8128ST8SIA2rs2045268 1 92989647 C A 2 0 0 0 0 0 2 Positive
AutG146395GSG1Lrs205409 1 28063948 G A 2 0 0 0 0 0 2 Positive
rs2075360 3 171227112 C C 2 0 0 0 0 0 2 Negative
AutG9699RIMS2rs2080610 8 104553408 A G 2 0 0 0 0 0 2 Negative
AutG1358CPA2rs2171493 - - - - 2 0 0 0 0 0 2 Negative
AutG200150PLD5rs2196826 - - - - 2 0 0 0 0 0 2 Positive
AutG9732DOCK4rs2217262 - - - - 2 0 0 0 0 0 2 Negative

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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