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
AutG2996GYPE - 4 144797973 C T 0 0 0 1 0 0 1
AutG987LRBA - 4 151749715 G T 0 0 0 1 0 0 1
AutG2743GLRB - 4 158091801 G A 0 0 0 1 0 0 1 Positive
AutG2891GRIA2 - 4 158262484 C T 0 0 0 1 0 0 1 Positive
AutG55601DDX60 - 4 169195105 C G 0 0 0 1 0 0 1 Positive
AutG51809GALNT7 - 4 174223211 G T 0 0 0 1 0 0 1 Positive
AutG10016PDCD6 - 5 306768 G A 0 0 0 1 0 0 1 Positive
AutG90268OTULIN - 5 14693136 G T 0 0 0 1 0 0 1
AutG29102DROSHA - 5 31406995 G A 0 0 0 1 0 0 1
AutG23037PDZD2 - 5 32074487 G A 0 0 0 1 0 0 1
AutG81792ADAMTS12 - 5 33576539 G T 0 0 0 1 0 0 1
AutG114899C1QTNF3 - 5 34028963 G A 0 0 0 1 0 0 1 Positive
AutG114899C1QTNF3 - 5 34043091 G A 0 0 0 1 0 0 1
AutG253260RICTOR - 5 38947542 A T 0 0 0 1 0 0 1 Positive
AutG133558MROH2B - 5 41048456 G C 0 0 0 1 0 0 1
AutG5019OXCT1 - 5 41850175 T C 0 0 0 1 0 0 1 Positive
AutG3157HMGCS1 - 5 43298925 G A 0 0 0 1 0 0 1 Positive
AutG55255WDR41 - 5 76728978 G A 0 0 0 1 0 0 1
AutG4437MSH3 - 5 80169078 G A 0 0 0 1 0 0 1 Positive
AutG4208MEF2C - 5 88018537 G C 0 0 0 1 0 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