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
AutG221981THSD7A - 7 11704650 C T 0 0 0 0 1 0 1
AutG10157AASS - 7 121766464 C A 0 0 0 0 1 0 1 Positive
AutG389549FEZF1 - 7 121944239 - - 0 0 0 0 1 0 1 Positive
AutG168433RNF133 - 7 122338970 C T 0 0 0 0 1 0 1
AutG54664TMEM106B - 7 12258122 G A 0 0 0 0 1 0 1
AutG4850CNOT4 - 7 135444724 C Y 0 0 0 0 1 0 1 Positive
AutG3792KEL - 7 142655008 G A 0 0 0 0 1 0 1
AutG5304PIP - 7 142836646 - - 0 0 0 0 1 0 1 Negative
AutG2041EPHA1 - 7 143095153 C T 0 0 0 0 1 0 1
AutG27010TPK1 - 7 145657317 T C 0 0 0 0 1 0 1
AutG26047CNTNAP2 - 7 146351457 G - 0 0 0 0 1 0 1
AutG26047CNTNAP2 - 7 146536803 - - 0 0 0 0 1 0 1
AutG26047CNTNAP2 - 7 146818169 G C 0 0 0 0 1 0 1
AutG9601PDIA4 - 7 148701164 T C 0 0 0 0 1 0 1
AutG28959TMEM176B - 7 150493495 G A 0 0 0 0 1 0 1
AutGKMT2C - 7 151845580 G A 0 0 0 0 1 0 1
AutGKMT2C - 7 151874822 - C 0 0 0 0 1 0 1
AutGKMT2C - 7 151921614 - - 0 0 0 0 1 0 1
AutGKMT2C - 7 151945256 G A 0 0 0 0 1 0 1
AutGKMT2C - 7 151962134 G T 0 0 0 0 1 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