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
AutG171023ASXL1 - 20 31022346 G A 0 0 0 0 1 0 1
AutG9139CBFA2T2 - 20 32194858 C G 0 0 0 0 1 0 1
AutG55245UQCC - 20 33891824 C T 0 0 0 0 1 0 1
AutG11190CEP250 - 20 34064340 C T 0 0 0 0 1 0 1
AutG140711C20orf118 - 20 35521264 G T 0 0 0 0 1 0 1
AutG5933RBL1 - 20 35684650 G A 0 0 0 0 1 0 1
AutG9935MAFB - 20 39380400 C - 0 0 0 0 1 0 1
AutG128497C20orf165 - 20 44515322 C T 0 0 0 0 1 0 1
AutG5360PLTP - 20 44536520 C T 0 0 0 0 1 0 1
AutG57580PREX1 - 20 47271842 A G 0 0 0 0 1 0 1
AutG3745KCNB1 - 20 47989527 C T 0 0 0 0 1 0 1
AutG23394ADNP - 20 49507972 - GG 0 0 0 0 1 0 1
AutG23394ADNP - 20 49507974 C C/T 0 0 0 0 1 0 1 Positive
AutG23394ADNP - 20 49508035 - - 0 0 0 0 1 0 1
AutG23394ADNP - 20 49508079 A A/G 0 0 0 0 1 0 1 Positive
AutG23394ADNP - 20 49508156 G C/G 0 0 0 0 1 0 1 Positive
AutG23394ADNP - 20 49508199 T C/T 0 0 0 0 1 0 1 Positive
AutG23394ADNP - 20 49508283 C C/T 0 0 0 0 1 0 1 Positive
AutG23394ADNP - 20 49508291 T C/T 0 0 0 0 1 0 1 Positive
AutG23394ADNP - 20 49508436 T G/T 0 0 0 0 1 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