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
AutG4798NFRKB - 11 129739572 C T 0 0 1 0 0 0 1
AutG9743ARHGAP32 - 11 128840352 CG C 0 0 1 0 0 0 1
AutG9743ARHGAP32 - 11 128839782 G A 0 0 1 0 0 0 1 Positive
AutG2113ETS1 - 11 128442976 G A 0 0 1 0 0 0 1
AutG84623KIRREL3 - 11 126343313 C T 0 0 1 0 0 0 1 Positive
AutG84623KIRREL3 - 11 126293121 A G 0 0 1 0 0 0 1
AutG6734SRPR - 11 126134982 C Y 0 0 1 0 0 0 1 Positive
AutG50937CDON - 11 125891290 A R 0 0 1 0 0 0 1
AutG50937CDON - 11 125871738 T C 0 0 1 0 0 0 1
AutG50937CDON - 11 125864185 C T 0 0 1 0 0 0 1 Positive
AutG50937CDON - 11 125831706 G A 0 0 1 0 0 0 1 Positive
AutG29118DDX25 - 11 125791158 A G 0 0 1 0 0 0 1
AutG83480PUS3 - 11 125765418 C G 0 0 1 0 0 0 1 Positive
AutG9638FEZ1 - 11 125353018 A G 0 0 1 0 0 0 1
AutG63876PKNOX2 - 11 125281736 G A 0 0 1 0 0 0 1 Positive
AutG219855SLC37A2 - 11 124950640 G A 0 0 1 0 0 0 1
AutG54538ROBO4 - 11 124761588 C T 0 0 1 0 0 0 1
AutG57476GRAMD1B - 11 123477359 G A 0 0 1 0 0 0 1
AutG7007TECTA - 11 121060495 T TGGAG 0 0 1 0 0 0 1
AutG7007TECTA - 11 121039453 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