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
AutG1610DAO - 12 109293187 G A 0 0 0 0 1 0 1
AutG84749USP30 - 12 109523551 C T 0 0 0 0 1 0 1
AutG50836TAS2R8 - 12 10959438 G A 0 0 0 0 1 0 1
AutG50835TAS2R9 - 12 10961978 C T 0 0 0 0 1 0 1
AutG89910UBE3B - 12 109924375 C T 0 0 0 0 1 0 1
AutG28981IFT81 - 12 110566766 G A 0 0 0 0 1 0 1
AutG144715RAD9B - 12 110952892 C G 0 0 0 0 1 0 1
AutG84329HVCN1 - 12 111093062 G A 0 0 0 0 1 0 1
AutG10906TRAFD1 - 12 112583447 A C 0 0 0 0 1 0 1
AutG5781PTPN11 - 12 112926888 G A 0 0 0 0 1 0 1 Positive
AutG4940OAS3 - 12 113403675 C T 0 0 0 0 1 0 1
AutG6926TBX3 - 12 115300001 G CT 0 0 0 0 1 0 1
AutG23389MED13L - 12 116403898 G C/G 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116408522 A A/C 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116413380 C A/C 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116413426 C A/C 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116413537 T C/T 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116413542 C C/T 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116418581 T C/T 0 0 0 0 1 0 1 Positive
AutG23389MED13L - 12 116418713 T C/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