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
AutG7204TRIO - 5 14387728 - - 0 0 0 0 0 1 1 Positive
AutG7204TRIO - 5 14390409 - - 0 0 0 0 0 1 1 Positive
AutG7204TRIO - 5 14471427 G A 0 0 0 0 0 1 1 Positive
AutG7204TRIO - 5 14471479 G A 0 0 0 0 0 1 1 Positive
AutG7204TRIO - 5 14482826 C G 0 0 0 0 0 1 1 Positive
AutG7204TRIO - 5 14485261 G C 0 0 0 0 0 1 1 Positive
AutG7204TRIO - 5 14498270 G A 0 0 0 0 0 1 1 Positive
AutG5528PPP2R5D - 6 42975000 G A 0 0 0 0 0 1 1 Positive
AutG5528PPP2R5D - 6 42975003 G A 0 0 0 0 0 1 1 Positive
AutG5528PPP2R5D - 6 42975009 G A 0 0 0 0 0 1 1 Positive
AutG5528PPP2R5D - 6 42977066 G A 0 0 0 0 0 1 1 Positive
AutG93664CADPS2 - 7 122001046 C T 0 0 0 0 0 1 1 Negative
AutG93664CADPS2 - 7 122019472 C T 0 0 0 0 0 1 1 Positive
AutG93664CADPS2 - 7 122027130 C T 0 0 0 0 0 1 1 Negative
AutG93664CADPS2 - 7 122114500 A C 0 0 0 0 0 1 1 Negative
AutG93664CADPS2 - 7 122114544 A G 0 0 0 0 0 1 1 Negative
AutG93664CADPS2 - 7 122255252 G C 0 0 0 0 0 1 1 Positive
AutG93664CADPS2 - 7 122526314 G A 0 0 0 0 0 1 1 Positive
AutG26047CNTNAP2 - 7 147969830 - - 0 0 0 0 0 1 1 Negative
AutG26053AUTS2 - 7 70228020 - - 0 0 0 0 0 1 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