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
AutG124540MSI2 - 17 55428700 G A 0 0 1 0 0 0 1
AutG7716VEZF1 - 17 56060162 T G 0 0 1 0 0 0 1 Positive
AutG54903MKS1 - 17 56285320 G A 0 0 1 0 0 0 1 Positive
AutG4353MPO - 17 56353059 G T 0 0 1 0 0 0 1 Positive
AutG9256BZRAP1 - 17 56404969 C A 0 0 1 0 0 0 1
AutG54894RNF43 - 17 56435546 G A 0 0 1 0 0 0 1 Positive
AutG124535HSF5 - 17 56513306 T G 0 0 1 0 0 0 1
AutG4591TRIM37 - 17 57105783 T C 0 0 1 0 0 0 1
AutG4591TRIM37 - 17 57119260 C T 0 0 1 0 0 0 1
AutG6198RPS6KB1 - 17 58022775 A G 0 0 1 0 0 0 1
AutG8493PPM1D - 17 58740376 G A 0 0 1 0 0 0 1
AutG9496TBX4 - 17 59544933 C T 0 0 1 0 0 0 1 Positive
AutG9969MED13 - 17 60060310 AGGAGTCCTT A 0 0 1 0 0 0 1
AutG9969MED13 - 17 60088343 G A 0 0 1 0 0 0 1
AutG11011TLK2 - 17 60655885 A C 0 0 1 0 0 0 1 Positive
AutG11011TLK2 - 17 60679466 - - 0 0 1 0 0 0 1
AutG26115TANC2 - 17 61473156 G A 0 0 1 0 0 0 1 Positive
AutG1636ACE - 17 61559007 CTGGGAAGGGTCGATG - 0 0 1 0 0 0 1
AutG1636ACE - 17 61566305 A G 0 0 1 0 0 0 1 Positive
AutG6329SCN4A - 17 62018938 G A 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