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
AutG26040SETBP1 - 18 42532021 * complex, +GG&-C 0 0 1 0 0 0 1
AutG26040SETBP1 - 18 42532022 C G 0 0 1 0 0 0 1 Positive
AutG162699TCEB3C - 18 44549025 T TGC 0 0 1 0 0 0 1
AutG83473KATNAL2 - 18 44589434 - A 0 0 1 0 0 0 1
AutG83473KATNAL2 - 18 44589733 G R 0 0 1 0 0 0 1
AutG83473KATNAL2 - 18 44595909 - C 0 0 1 0 0 0 1
AutG83473KATNAL2 - 18 44603833 G S 0 0 1 0 0 0 1
AutG51124IER3IP1 - 18 45088528 C T 0 0 1 0 0 0 1
AutG30827CXXC1 - 18 47810914 G A 0 0 1 0 0 0 1 Positive
AutG5596MAPK4 - 18 48190687 C T 0 0 1 0 0 0 1
AutG5596MAPK4 - 18 48241495 G A 0 0 1 0 0 0 1 Positive
AutG11201POLI - 18 51795940 G T 0 0 1 0 0 0 1
AutG11201POLI - 18 51795993 T C 0 0 1 0 0 0 1 Positive
AutG162681C18orf54 - 18 51889162 CTT CTTT 0 0 1 0 0 0 1
AutG284254C18orf26 - 18 52265167 G T 0 0 1 0 0 0 1
AutG80323CCDC68 - 18 52585148 G A 0 0 1 0 0 0 1 Positive
AutG6925TCF4 - 18 52889987 C T 0 0 1 0 0 0 1
AutG6925TCF4 - 18 52895538 AC A 0 0 1 0 0 0 1
AutG6925TCF4 - 18 52896077 - A 0 0 1 0 0 0 1
AutG6925TCF4 - 18 52896231 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