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
AutG6326SCN2A - 2 166170231 G A 0 0 1 0 0 0 1 Positive
AutG6326SCN2A - 2 166170548 GGCTGAACAGAAGGAAGCTGAATTTCAGCAGAT G 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166170550 GCTGAACAGAAGGAAGCTGAATTTCAGCAGAT - 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166172026 G G/T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166172031 TG T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166179687 TC T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166179813 C C/T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166179813 C T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166179814 GAA G 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166201068 C C/T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166201312 G A 0 0 1 0 0 0 1 Positive
AutG6326SCN2A - 2 166201379 C A 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166210819 G T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166229733 A A/C 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166229813 - T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166229841 G C/G 0 0 1 0 0 0 1 Positive
AutG6326SC2A - 2 166237202 G C 0 0 1 0 0 0 1 Positive
AutG6326SCN2A - 2 166243497 ATT A 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166245137 A T 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166245189 TC 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