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
AutG10802SEC24A - 5 134059282 C G 0 0 1 0 0 0 1 Positive
AutG7045TGFBI - 5 135385199 C A 0 0 1 0 0 0 1
AutG4090SMAD5 - 5 135489574 TAAAA T 0 0 1 0 0 0 1
AutG8697CDC23 - 5 137524696 G A 0 0 1 0 0 0 1 Positive
AutG8697CDC23 - 5 137534408 CTG C 0 0 1 0 0 0 1
AutG1495CTNNA1 - 5 138180194 C A 0 0 1 0 0 0 1
AutG26045LRRTM2 - 5 138209298 G A 0 0 1 0 0 0 1
AutG51523CXXC5 - 5 139060538 C A 0 0 1 0 0 0 1
AutG404734ANKHD1-EIF4EBP3 - 5 139889224 G A 0 0 1 0 0 0 1
AutG54853WDR55 - 5 140048282 C T 0 0 1 0 0 0 1 Positive
AutG23438HARS2 - 5 140076709 CG C 0 0 1 0 0 0 1
AutG56146PCDHA2 - 5 140175208 C A 0 0 1 0 0 0 1 Positive
AutG56143PCDHA5 - 5 140203699 C A 0 0 1 0 0 0 1
AutG56136PCDHA13 - 5 140263769 A T 0 0 1 0 0 0 1 Positive
AutG56131PCDHB4 - 5 140503243 G S 0 0 1 0 0 0 1
AutG56127PCDHB9 - 5 140567643 G C 0 0 1 0 0 0 1
AutG56127PCDHB9 - 5 140569226 G T 0 0 1 0 0 0 1
AutG56109PCDHGA6 - 5 140754841 A G 0 0 1 0 0 0 1
AutG56099PCDHGB7 - 5 140799782 A C 0 0 1 0 0 0 1
AutG1729DIAPH1 - 5 140913939 C G 0 0 1 0 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