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
AutG7172TPMT - 6 18139228 C T 0 0 0 0 1 0 1
AutG3400ID4 - 6 19976917 A G 0 0 0 0 1 0 1
AutG3400ID4 - 6 19976919 C A 0 0 0 0 1 0 1
AutG3400ID4 - 6 20034798 A - 0 0 0 0 1 0 1
AutG54901CDKAL1 - 6 20546697 G A 0 0 0 0 1 0 1
AutGCASC15 - 6 22118051 A - 0 0 0 0 1 0 1
AutG10385BTN2A2 - 6 26384060 C T 0 0 0 0 1 0 1
AutG10385BTN2A2 - 6 26385263 C G 0 0 0 0 1 0 1
AutG7741ZNF187 - 6 28240525 C T 0 0 0 0 1 0 1
AutG64288ZNF323 - 6 28297279 C T 0 0 0 0 1 0 1
AutG282890ZNF311 - 6 28962882-886 TTCTT - 0 0 0 0 1 0 1
AutG4340MOG - 6 29627222 C A 0 0 0 0 1 0 1
AutG170954KIAA1949 - 6 30652729 G A 0 0 0 0 1 0 1
AutG9656MDC1 - 6 30679963 A C 0 0 0 0 1 0 1
AutG9656MDC1 - 6 30680968 C T 0 0 0 0 1 0 1
AutG4276MICA - 6 31378965 G A 0 0 0 0 1 0 1
AutG670BPHL - 6 3140676 G A 0 0 0 0 1 0 1
AutG670BPHL - 6 3152781 A G 0 0 0 0 1 0 1
AutG7916BAT2 - 6 31603009 A G 0 0 0 0 1 0 1
AutG10919EHMT2 - 6 31864538 G A 0 0 0 0 1 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