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
AutG134359POC5 - 5 74981033 A G 0 0 1 0 0 0 1
AutGCR594687 - 5 75469979 G T 0 0 1 0 0 0 1
AutG10788IQGAP2 - 5 75902128 C Y 0 0 1 0 0 0 1
AutG10788IQGAP2 - 5 75923263 G A 0 0 1 0 0 0 1
AutG55109AGGF1 - 5 76342465 T G 0 0 1 0 0 0 1 Positive
AutG8546AP3B1 - 5 77316626 A T 0 0 1 0 0 0 1
AutG10184LHFPL2 - 5 77805897 G C 0 0 1 0 0 0 1
AutG167153PAPD4 - 5 78975417 G C 0 0 1 0 0 0 1 Positive
AutG202333CMYA5 - 5 79025667 ACAGTCAGT ACAGT 0 0 1 0 0 0 1
AutG256987SERIC5 - 5 79465157 C T 0 0 1 0 0 0 1
AutG23635SSBP2 - 5 80714132 A G 0 0 1 0 0 0 1
AutG1462VCAN - 5 82833531 T G 0 0 1 0 0 0 1
AutG10085EDIL3 - 5 83433140 T G 0 0 1 0 0 0 1
AutG10085EDIL3 - 5 85066651 A G 0 0 1 0 0 0 1
AutG285622NBPF22P - 5 85664849 G C 0 0 1 0 0 0 1
AutG84059GPR98 - 5 89949288 G A 0 0 1 0 0 0 1 Positive
AutG84059GPR98 - 5 90144469 A G 0 0 1 0 0 0 1
AutG84059GPR98 - 5 90449166 G A 0 0 1 0 0 0 1
AutG84059GPR98 - 5 90449224 A T 0 0 1 0 0 0 1
AutG100129716LOC100129716 - 5 91378594 T C 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