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
AutG9320TRIP12 - 2 230650514 Y C/T 0 0 0 0 1 0 1 Positive
AutG9320TRIP12 - 2 230660028 Y C/T 0 0 0 0 1 0 1 Positive
AutG9320TRIP12 - 2 230661473 R A/G 0 0 0 0 1 0 1 Positive
AutG9320TRIP12 - 2 230667106 R A/G 0 0 0 0 1 0 1 Positive
AutG9320TRIP12 - 2 230679005 Y C/T 0 0 0 0 1 0 1 Positive
AutG9320TRIP12 - 2 230723547 S C/G 0 0 0 0 1 0 1 Positive
AutG9320TRIP12 - 2 230723679 R A/G 0 0 0 0 1 0 1 Positive
AutG9320TRIP12 - 2 230724096 R A/G 0 0 0 0 1 0 1 Positive
AutG9320TRIP12 - 2 230724204 K G/T 0 0 0 0 1 0 1 Positive
AutG9320TRIP12 - 2 230725206 S C/G 0 0 0 0 1 0 1 Positive
AutG130888FBXO36 - 2 230841011 C T 0 0 0 0 1 0 1
AutG6672SP100 - 2 231326031 G A 0 0 0 0 1 0 1
AutG251ALPPL2 - 2 233272091 C T 0 0 0 0 1 0 1
AutG26058GIGYF2 - 2 233612356 A A/G 0 0 0 0 1 0 1 Positive
AutG26058GIGYF2 - 2 233613755 C C/T 0 0 0 0 1 0 1 Positive
AutG26058GIGYF2 - 2 233655527 A A/G 0 0 0 0 1 0 1 Positive
AutG26058GIGYF2 - 2 233655615 T G/T 0 0 0 0 1 0 1 Positive
AutG26058GIGYF2 - 2 233656136 A A/G 0 0 0 0 1 0 1 Positive
AutG26058GIGYF2 - 2 233659563 G A/G 0 0 0 0 1 0 1 Positive
AutG26058GIGYF2 - 2 233671257 T G/T 0 0 0 0 1 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