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
AutG4173MCM4 - 8 48883381 G C 0 0 1 0 0 0 1
AutG54212SNTG1 - 8 51306875 G A 0 0 1 0 0 0 1
AutG54212SNTG1 - 8 51314822 T C 0 0 1 0 0 0 1
AutG137902PXDNL - 8 52320634 G A 0 0 1 0 0 0 1
AutG137902PXDL - 8 52321720 TC T 0 0 1 0 0 0 1
AutG137902PXDNL - 8 52359655 T C 0 0 1 0 0 0 1
AutG137902PXDNL - 8 52366170 C T 0 0 1 0 0 0 1
AutG9821RB1CC1 - 8 53537291 GT GTT 0 0 1 0 0 0 1
AutG2831NPBWR1 - 8 53852827 CTTCT C 0 0 1 0 0 0 1
AutG4986OPRK1 - 8 54142225 G T 0 0 1 0 0 0 1
AutG5862RAB2A - 8 61484622 C T 0 0 1 0 0 0 1
AutG55636CHD7 - 8 61735090 G R 0 0 1 0 0 0 1
AutG55636CHD7 - 8 61769254 ACCAGTGTCTG A 0 0 1 0 0 0 1
AutG55636CHD7 - 8 61774804 G A 0 0 1 0 0 0 1 Positive
AutG100616484MIR4470 - 8 63043069 G T 0 0 1 0 0 0 1
AutG100616484MIR4470 - 8 63043070 A T 0 0 1 0 0 0 1
AutG55156ARMC1 - 8 66534524 C A 0 0 1 0 0 0 1
AutG80124VCPIP1 - 8 67579130 G A 0 0 1 0 0 0 1
AutG100129654TCF24 - 8 67860293 G A 0 0 1 0 0 0 1
AutG79848CSPP1 - 8 68084781 A C 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