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
AutG57492ARID1B - 6 157502271 C T 0 0 1 0 0 0 1
AutG57492ARID1B - 6 157510805 * +C/* 0 0 1 0 0 0 1
AutG57492ARID1B - 6 157525120 A G 0 0 1 0 0 0 1
AutG57492ARID1B - 6 157527539 - A 0 0 1 0 0 0 1
AutG57492ARID1B - 6 157527664 * -TGTT/* 0 0 1 0 0 0 1
AutG57492ARID1B - 6 157527664 * 4D, -TGTT 0 0 1 0 0 0 1
AutG57492ARID1B - 6 157527679 C T 0 0 1 0 0 0 1
AutG57492ARID1B - 6 157528178 A G 0 0 1 0 0 0 1
AutG79683ZDHHC14 - 6 158014030 C T 0 0 1 0 0 0 1
AutG79683ZDHHC14 - 6 158094104 T C 0 0 1 0 0 0 1
AutG56995TULP4 - 6 158924672 T G 0 0 1 0 0 0 1
AutG94120SYTL3 - 6 159184512 G A 0 0 1 0 0 0 1 Positive
AutG7430EZR - 6 159240347 C T 0 0 1 0 0 0 1
AutG29074MRPL18 - 6 160211586 A G 0 0 1 0 0 0 1
AutG3482IGF2R - 6 160445739 A G 0 0 1 0 0 0 1
AutG3482IGF2R - 6 160499238 G A 0 0 1 0 0 0 1
AutG3482IGF2R - 6 160524825 A G 0 0 1 0 0 0 1
AutG5340PLG - 6 161139767 G T 0 0 1 0 0 0 1
AutG5071PARK2 - 6 162117122 C T 0 0 1 0 0 0 1
AutG168090C6orf118 - 6 165723092 G A 0 0 1 0 0 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