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
AutG54887UHRF1BP1 - 6 34824175 G A 0 0 1 0 0 0 1
AutG54887UHRF1BP1 - 6 34825498 C T 0 0 1 0 0 0 1
AutG54887UHRF1BP1 - 6 34826068 T C 0 0 1 0 0 0 1
AutG6954TCP11 - 6 35088753 G A 0 0 1 0 0 0 1
AutG222663SCUBE3 - 6 35200730 C A 0 0 1 0 0 0 1
AutG7629ZNF76 - 6 35259464 G A 0 0 1 0 0 0 1 Positive
AutG5467PPARD - 6 35389613 C T 0 0 1 0 0 0 1 Positive
AutG2178FANCE - 6 35423695 C T 0 0 1 0 0 0 1
AutG2178FANCE - 6 35425695 G A 0 0 1 0 0 0 1
AutG5603MAPK13 - 6 36106748 C T 0 0 1 0 0 0 1 Positive
AutG11329STK38 - 6 36512111 C A 0 0 1 0 0 0 1
AutG221476PI16 - 6 36926932 G A 0 0 1 0 0 0 1
AutG221458KIF6 - 6 39512337 C T 0 0 1 0 0 0 1 Positive
AutG4337MOCS1 - 6 39902097 G C 0 0 1 0 0 0 1
AutG4800NFYA - 6 41046839 A G 0 0 1 0 0 0 1 Positive
AutG7942TFEB - 6 41657498 T A 0 0 1 0 0 0 1
AutG647024C6orf132 - 6 42072671 G T 0 0 1 0 0 0 1 Positive
AutG647024C6orf132 - 6 42072672 C T 0 0 1 0 0 0 1
AutG23304UBR2 - 6 42631075 G A 0 0 1 0 0 0 1 Positive
AutG23304UBR2 - 6 42657338 G T 0 0 1 0 0 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