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
AutG427ASAH1 - 8 17928913 T A 0 0 1 0 0 0 1
AutG9NAT1 - 8 18179813 T G 0 0 1 0 0 0 1
AutG63898SH2D4A - 8 19184456 G A 0 0 1 0 0 0 1
AutG2039EPB49 - 8 21931296 C T 0 0 1 0 0 0 1
AutG6440SFTPC - 8 22019422 G A 0 0 1 0 0 0 1
AutG649BMP1 - 8 22067161 G R 0 0 1 0 0 0 1
AutG55124PIWIL2 - 8 22147874 G A 0 0 1 0 0 0 1
AutG1960EGR3 - 8 22548464 T A 0 0 1 0 0 0 1
AutG1960EGR3 - 8 22550356 G A 0 0 1 0 0 0 1
AutG80005DOCK5 - 8 25257428 C CT 0 0 1 0 0 0 1
AutG80005DOCK5 - 8 25258469 C T 0 0 1 0 0 0 1 Positive
AutG64641EBF2 - 8 25898178 G T 0 0 1 0 0 0 1 Positive
AutG1808DPYSL2 - 8 26501494 C A 0 0 1 0 0 0 1
AutG81551STMN4 - 8 27097681 T C 0 0 1 0 0 0 1
AutG2185PTK2B - 8 27308294 G A 0 0 1 0 0 0 1
AutG51435SCARA3 - 8 27516996 G T 0 0 1 0 0 0 1
AutG23303KIF13B - 8 28976449 G C 0 0 1 0 0 0 1
AutG100422876MIR3148 - 8 29825502 C T 0 0 1 0 0 0 1
AutG56154TEX15 - 8 30701097 T C 0 0 1 0 0 0 1
AutG56154TEX15 - 8 30702135 C T 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