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
AutG6521SLC4A1 - 17 42340237 C T 0 0 1 0 0 0 1
AutG2896GRN - 17 42428483 A G 0 0 1 0 0 0 1
AutG2896GRN - 17 42429110 G A 0 0 1 0 0 0 1
AutG3674ITGA2B - 17 42451729 A G 0 0 1 0 0 0 1 Positive
AutG2535FZD2 - 17 42659977 A C 0 0 1 0 0 0 1
AutG80174DBF4B - 17 42828130 C T 0 0 1 0 0 0 1
AutG9343EFTUD2 - 17 42931953 T G 0 0 1 0 0 0 1 Positive
AutG9343EFTUD2 - 17 42932002 C T 0 0 1 0 0 0 1
AutG146909KIF18B - 17 43006344 G A 0 0 1 0 0 0 1
AutG79877DCAKD - 17 43111636 - - 0 0 1 0 0 0 1
AutG124783C17orf46 - 17 43333387 C T 0 0 1 0 0 0 1
AutG124783C17orf46 - 17 43333388 A G 0 0 1 0 0 0 1
AutG9842PLEKHM1 - 17 43535724 T C 0 0 1 0 0 0 1
AutG7484WNT9B - 17 44950046 G A 0 0 1 0 0 0 1 Positive
AutG996CDC27 - 17 45219311 T C 0 0 1 0 0 0 1
AutG3690ITGB3 - 17 45368327 G R 0 0 1 0 0 0 1
AutG124989C17orf57 - 17 45369819 C T 0 0 1 0 0 0 1
AutG90507SCRN2 - 17 45915213 C T 0 0 1 0 0 0 1
AutG90507SCRN2 - 17 45915703 T C 0 0 1 0 0 0 1
AutG80279CDK5RAP3 - 17 46071412 C T 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