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
AutG9699RIMS2 - 8 104778570 G R 0 0 1 0 0 0 1
AutG29967LRP12 - 8 106182902 A G 0 0 1 0 0 0 1
AutG23414ZFPM2 - 8 106813565 - - 0 0 1 0 0 0 1
AutG55074OXR1 - 8 107718722 A C 0 0 1 0 0 0 1 Positive
AutG55074OXR1 - 8 107752663 C T 0 0 1 0 0 0 1
AutG284ANGPT1 - 8 108648303 G T 0 0 1 0 0 0 1
AutG284ANGPT1 - 8 108648304 A T 0 0 1 0 0 0 1
AutG84955NUDCD1 - 8 110255473 G A 0 0 1 0 0 0 1 Positive
AutG93035PKHD1L1 - 8 110478863 A G 0 0 1 0 0 0 1
AutG9166EBAG9 - 8 110576670 A T 0 0 1 0 0 0 1
AutG114788CSMD3 - 8 113447648 T C 0 0 1 0 0 0 1
AutG114788CSMD3 - 8 113649210 T A 0 0 1 0 0 0 1 Positive
AutG114788CSMD3 - 8 114388958 ATATCTA ATATCTATCTA 0 0 1 0 0 0 1
AutG7227TRPS1 - 8 116616940 C A 0 0 1 0 0 0 1
AutG8667EIF3H - 8 117669454 G A 0 0 1 0 0 0 1 Positive
AutG2131EXT1 - 8 118938367 T C 0 0 1 0 0 0 1
AutG2131EXT1 - 8 119122786 G A 0 0 1 0 0 0 1 Positive
AutG4856NOV - 8 120427655 C G 0 0 1 0 0 0 1
AutG7373COL14A1 - 8 121211702 A C 0 0 1 0 0 0 1
AutG3037HAS2 - 8 122641398 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