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
AutG57683ZDBF2 - 2 207173105 A T 0 0 1 0 0 0 1
AutG57683ZDBF2 - 2 207175071 C T 0 0 1 0 0 0 1
AutG57683ZDBF2 - 2 207176286 C T 0 0 1 0 0 0 1
AutGcoding intron of - 2 207621863 AG - 0 0 1 0 0 0 1
AutG8609KLF7 - 2 208205954 A C 0 0 1 0 0 0 1
AutG200576PIKFYVE - 2 209167007 G A 0 0 1 0 0 0 1 Positive
AutG200576PIKFYVE - 2 209217389 G A 0 0 1 0 0 0 1
AutG5746PTH2R - 2 209892173 T C 0 0 1 0 0 0 1
AutG285175UNC80 - 2 210745771 C T 0 0 1 0 0 0 1
AutG285175UNC80 - 2 210834493 C T 0 0 1 0 0 0 1
AutG1373CPS1 - 2 211466977 C T 0 0 1 0 0 0 1 Positive
AutG1373CPS1 - 2 211700046 T C 0 0 1 0 0 0 1
AutG2066ERBB4 - 2 212522487 T C 0 0 1 0 0 0 1
AutG22807IKZF2 - 2 213886838 C G 0 0 1 0 0 0 1 Positive
AutG100130451LOC100130451 - 2 214140664 G A 0 0 1 0 0 0 1
AutG26154ABCA12 - 2 215846997 C G 0 0 1 0 0 0 1
AutG26154ABCA12 - 2 215852457 C T 0 0 1 0 0 0 1
AutG471ATIC - 2 216211489 G A 0 0 1 0 0 0 1 Positive
AutG2335FN1 - 2 216239958 C T 0 0 1 0 0 0 1
AutG2335FN1 - 2 216251636 T G 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