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
AutG23522KAT6B - 10 76789588 A G 0 0 0 1 0 0 1 Positive
AutG3778KCNMA1 - 10 78870005 C T 0 0 0 1 0 0 1 Positive
AutG1592CYP26A1 - 10 94836446 A G 0 0 0 1 0 0 1 Positive
AutG1558CYP2C8 - 10 96827403 T C 0 0 0 1 0 0 1
AutG26123TCTN3 - 10 97446866 C T 0 0 0 1 0 0 1
AutG84795PYROXD2 - 10 100155122 G C 0 0 0 1 0 0 1
AutG1244ABCC2 - 10 101594216 T C 0 0 0 1 0 0 1 Positive
AutG23082PPRC1 - 10 103908274 C T 0 0 0 1 0 0 1 Positive
AutG120ADD3 - 10 111872568 G A 0 0 0 1 0 0 1 Positive
AutG27250PDCD4 - 10 112647536 T C 0 0 0 1 0 0 1
AutG2869GRK5 - 10 121212266 C T 0 0 0 1 0 0 1
AutG1755DMBT1 - 10 124345854 T A 0 0 0 1 0 0 1
- 10 124350983 T G 0 0 0 1 0 0 1
AutG1755DMBT1 - 10 124351801 T C 0 0 0 1 0 0 1
AutG256536TCERG1L - 10 132944875 C G 0 0 0 1 0 0 1
AutG1571CYP2E1 - 10 135345665 G A 0 0 0 1 0 0 1
AutG4588MUC6 - 11 1016288 G C 0 0 0 1 0 0 1
AutG387264KRTAP5-1 - 11 1606038 A G 0 0 0 1 0 0 1
AutG56547MMP26 - 11 5011021 C A 0 0 0 1 0 0 1
AutG50613UBQLN3 - 11 5530104 T C 0 0 0 1 0 0 1 Positive

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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