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
AutG2560GABRB1 - 4 47033990 GAT G 0 0 1 0 0 0 1
AutG2560GABRB1 - 4 47405626 T C 0 0 1 0 0 0 1 Positive
AutG7006TEC - 4 48147297 C T 0 0 1 0 0 0 1
AutG285527FRYL - 4 48514594 T K 0 0 1 0 0 0 1
AutG285527FRYL - 4 48563484 C T 0 0 1 0 0 0 1
AutG23142DCUN1D4 - 4 52742146 A T 0 0 1 0 0 0 1
AutG64854USP46 - 4 53492207 G R 0 0 1 0 0 0 1
AutGERVMER34-1 - 4 53610949 - - 0 0 1 0 0 0 1
AutG84708LNX1 - 4 54362459 A T 0 0 1 0 0 0 1
AutG3791KDR - 4 56081457 C G 0 0 1 0 0 0 1
AutG79644SRD5A3 - 4 56236104 T A 0 0 1 0 0 0 1 Positive
AutG9662CEP135 - 4 56846457 A G 0 0 1 0 0 0 1
AutG9662CEP135 - 4 57024256 T G 0 0 1 0 0 0 1
AutG132949AASDH - 4 57248651 G GT 0 0 1 0 0 0 1
AutG6731SRP72 - 4 57337973 G A 0 0 1 0 0 0 1
AutG255130LOC255130 - 4 59964963 C A 0 0 1 0 0 0 1
AutG253017TECRL - 4 65180381 C T 0 0 1 0 0 0 1 Positive
AutG2044EPHA5 - 4 66270142 T C 0 0 1 0 0 0 1
AutG55236UBA6 - 4 68497606 A G 0 0 1 0 0 0 1
AutG91746YTHDC1 - 4 69195952 AT 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