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
AutG53335BCL11A - 2 60688721 GA G 0 0 1 0 0 0 1
AutG53335BCL11A - 2 60689403 G C 0 0 1 0 0 0 1
AutG53335BCL11A - 2 60773348 C A 0 0 1 0 0 0 1 Positive
AutG53335BCL11A - 2 60972231 C A 0 0 1 0 0 0 1
AutG64895PAPOLG - 2 61014164 C A 0 0 1 0 0 0 1 Positive
AutG9736USP34 - 2 61415298 A G 0 0 1 0 0 0 1 Positive
AutG9736USP34 - 2 61451537 T G 0 0 1 0 0 0 1
AutG5013OTX1 - 2 63283025 C G 0 0 1 0 0 0 1
AutG7360UGP2 - 2 64113658 A G 0 0 1 0 0 0 1 Positive
AutG51542VPS54 - 2 64120568 C A 0 0 1 0 0 0 1
AutG57162PELI1 - 2 64322284 G A 0 0 1 0 0 0 1 Positive
AutG339807LOC339807 - 2 64844094 G A 0 0 1 0 0 0 1
AutG9792SERTAD2 - 2 64863430 C T 0 0 1 0 0 0 1
AutG6509SLC1A4 - 2 65245299 G A 0 0 1 0 0 0 1 Positive
AutG200734SPRED2 - 2 65561787 G A 0 0 1 0 0 0 1
AutG200558APLF - 2 68794483 C A 0 0 1 0 0 0 1 Positive
AutG200558APLF - 2 68794512 G R 0 0 1 0 0 0 1
AutG200504GKN2 - 2 69188286 T C 0 0 1 0 0 0 1
AutG54980C2orf42 - 2 70392261 T C 0 0 1 0 0 0 1
AutG51449PCYOX1 - 2 70502099 G A 0 0 1 0 0 0 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