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
AutG7316UBC - 12 125397211 G A 0 0 0 1 0 0 1
AutG57634EP400 - 12 132516561 C T 0 0 0 1 0 0 1
AutG2802GOLGA3 - 12 133381371 C G 0 0 0 1 0 0 1
AutG93492TPTE2 - 13 20006639 T A 0 0 0 1 0 0 1
AutG221154MICU2 - 13 22077136 G A 0 0 0 1 0 0 1 Positive
AutG56163RNF17 - 13 25373552 C A 0 0 0 1 0 0 1
AutG4093SMAD9 - 13 37447001 C A 0 0 0 1 0 0 1
AutG23078KIAA0564 - 13 42460095 G A 0 0 0 1 0 0 1
AutG5925RB1 - 13 48941688 C T 0 0 0 1 0 0 1
AutG26512INTS6 - 13 51948834 G A 0 0 0 1 0 0 1
AutG55901THSD1 - 13 52952708 T C 0 0 0 1 0 0 1 Positive
AutG27253PCDH17 - 13 58240856 G A 0 0 0 1 0 0 1 Positive
AutG81624DIAPH3 - 13 60548519 C T 0 0 0 1 0 0 1
AutG259232NALCN - 13 101890181 G A 0 0 0 1 0 0 1
AutG23026MYO16 - 13 109817311 G A 0 0 0 1 0 0 1
AutG23250ATP11A - 13 113516804 C T 0 0 0 1 0 0 1
AutG440153OR11H12 - 14 19378077 C T 0 0 0 1 0 0 1
AutG390431OR4K2 - 14 20344642 T G 0 0 0 1 0 0 1
- 14 20389721 G A 0 0 0 1 0 0 1
AutG84932RAB2B - 14 21943117 G T 0 0 0 1 0 0 1

Page Counts: 413/584  
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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