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
AutG348180CTU2 - 16 88779854 C T 0 0 0 1 0 0 1 Positive
AutG51031GLOD4 - 17 663411 C T 0 0 0 1 0 0 1
- 17 1561694 C T 0 0 0 1 0 0 1
AutG10594PRPF8 - 17 1582562 G A 0 0 0 1 0 0 1
AutG23293SMG6 - 17 2203809 T C 0 0 0 1 0 0 1
AutG388324INCA1 - 17 4892121 T C 0 0 0 1 0 0 1
AutG84622ZNF594 - 17 5085227 A G 0 0 0 1 0 0 1
AutG83394PITPNM3 - 17 6387531 C T 0 0 0 1 0 0 1
AutG4628MYH10 - 17 8526323 G A 0 0 0 1 0 0 1 Positive
- 17 10354727 T G 0 0 0 1 0 0 1
AutG1770DNAH9 - 17 11806196 C T 0 0 0 1 0 0 1
AutG93649MYOCD - 17 12620732 C T 0 0 0 1 0 0 1 Positive
AutG51168MYO15A - 17 18039050 T C 0 0 0 1 0 0 1 Positive
AutG2314FLII - 17 18152174 C T 0 0 0 1 0 0 1 Positive
AutG140775SMCR8 - 17 18220895 C T 0 0 0 1 0 0 1
AutG28964GIT1 - 17 27903116 C G 0 0 0 1 0 0 1
AutG91603ZNF830 - 17 33289423 G A 0 0 0 1 0 0 1 Positive
AutG414059TBC1D3B - 17 34499272 G A 0 0 0 1 0 0 1
AutG26574AATF - 17 35413915 G A 0 0 0 1 0 0 1
AutGRP11-1407O15.2 - 17 36357207 A G 0 0 0 1 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