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
AutG113146AHNAK2 - 14 105414377 C G 0 0 1 0 0 0 1
AutG113146AHNAK2 - 14 105414378 A G 0 0 1 0 0 0 1
AutG113146AHNAK2 - 14 105423814 C T 0 0 1 0 0 0 1
AutG113146AHNAK2 - 14 105423832 G A 0 0 1 0 0 0 1
AutG122616C14orf79 - 14 105459275 G A 0 0 1 0 0 0 1
AutG29933GPR132 - 14 105554707 G A 0 0 1 0 0 0 1
AutG29933GPR132 - 14 105554708 C G 0 0 1 0 0 0 1
AutG3714JAG2 - 14 105617992 G A 0 0 1 0 0 0 1
AutG256281NUDT14 - 14 105639351 TGGA T 0 0 1 0 0 0 1
AutG2972BRF1 - 14 105695155 C A 0 0 1 0 0 0 1
AutG2972BRF1 - 14 105707650 G A 0 0 1 0 0 0 1 Positive
AutG90135BTBD6 - 14 105716364 CAA C 0 0 1 0 0 0 1
AutG23241PACS2 - 14 105843213 G R 0 0 1 0 0 0 1
AutG114791TUBGCP5 - 15 22873217 T C 0 0 1 0 0 0 1
AutG54551MAGEL2 - 15 23890135 G A 0 0 1 0 0 0 1
AutG791115PWRN2 - 15 24730800 C A 0 0 1 0 0 0 1
AutG6638SNRPN - 15 25088705 - - 0 0 1 0 0 0 1
AutG57194ATP10A - 15 25924832 C T 0 0 1 0 0 0 1
AutG2562GABRB3 - 15 26793067 GA G 0 0 1 0 0 0 1
AutG2567GABRG3 - 15 27388483 C 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