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
AutG2305FOXM1 - 12 2968180 G A 0 0 1 0 0 0 1 Positive
AutG775CACNA1C - 12 2717804 G C 0 0 1 0 0 0 1 Positive
AutG93589CACNA2D4 - 12 1948914 - - 0 0 1 0 0 0 1
AutG5893RAD52 - 12 1025873 C CA 0 0 1 0 0 0 1
AutG84318CCDC77 - 12 551033 AAG A 0 0 1 0 0 0 1
AutG6540SLC6A13 - 12 346455 G A 0 0 1 0 0 0 1 Positive
AutG6540SLC6A13 - 12 332363 G A 0 0 1 0 0 0 1 Positive
AutG6540SLC6A13 - 12 332337 C T 0 0 1 0 0 0 1 Positive
AutG6539SLC6A12 - 12 308075 A C 0 0 1 0 0 0 1 Positive
AutG23310NCAPD3 - 11 134072722 A G 0 0 1 0 0 0 1
AutG22997IGSF9B - 11 133805548 G A 0 0 1 0 0 0 1 Positive
AutG22997IGSF9B - 11 133795695 T A 0 0 1 0 0 0 1 Positive
AutG22997IGSF9B - 11 133790094 GGGGCT - 0 0 1 0 0 0 1
AutG4978OPCML - 11 133255038 C T 0 0 1 0 0 0 1
AutG50863NTM - 11 132158232 A C 0 0 1 0 0 0 1
AutGLOC101929653 - 11 131345836 - - 0 0 1 0 0 0 1
AutG399979SNX19 - 11 130775881 C T 0 0 1 0 0 0 1
AutG399979SNX19 - 11 130753886 G A 0 0 1 0 0 0 1
AutG6768ST14 - 11 130069939 C G 0 0 1 0 0 0 1
AutG6768ST14 - 11 130048290 A T 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