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
AutG7249TSC2 - 16 2127640 - - 0 0 0 0 0 1 1 Positive
AutG7249TSC2 - 16 2127711 - - 0 0 0 0 0 1 1 Positive
AutG7249TSC2 - 16 2133801 - - 0 0 0 0 0 1 1 Positive
AutG7249TSC2 - 16 2134508 - - 0 0 0 0 0 1 1 Positive
AutG197335WDR90 - 16 710696 - - 0 0 0 0 0 1 1 Positive
AutG374786EFCAB5 - 17 28414130 - - 0 0 0 0 0 1 1 Positive
AutG10514MYBBP1A - 17 4458481 G A 0 0 0 0 0 1 1 Positive
AutG146722CD300LF - 17 72691313_72691326 - - 0 0 0 0 0 1 1 Positive
AutG4155MBP - 18 74728772 A G 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1043788 - - 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1045109 - - 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1046317 - - 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1050996 - - 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1051481 - - 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1057343 - - 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1058883 - - 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1059056 - - 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1062248 - - 0 0 0 0 0 1 1 Positive
AutG10347ABCA7 - 19 1065305 - - 0 0 0 0 0 1 1 Positive
AutG6326SCN2A - 2 166245217 G A 0 0 0 0 0 1 1 Positive

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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