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
AutG3352HTR1D - 1 23520238 A T 0 0 0 0 1 0 1
AutG55083KIF26B - 1 245320721 T C 0 0 0 0 1 0 1
AutG391194OR2M2 - 1 248343799 C G 0 0 0 0 1 0 1 Positive
AutG26245OR2M4 - 1 248403015 C A 0 0 0 0 1 0 1
AutG378807CATSPER4 - 1 26517811 A G 0 0 0 0 1 0 1
AutG257101ZNF683 - 1 26688464 G A 0 0 0 0 1 0 1
AutG8289ARID1A - 1 27089742 G A 0 0 0 0 1 0 1
AutGKDF1 - 1 27309892 G A 0 0 0 0 1 0 1
AutGLOC101929406 - 1 30822851 A G 0 0 0 0 1 0 1
AutG9202ZMYM4 - 1 35847032 G A 0 0 0 0 1 0 1
AutG29889GNL2 - 1 38047837 C T 0 0 0 0 1 0 1 Positive
AutG149465WDR65 - 1 43687928 G A 0 0 0 0 1 0 1
AutG79033ERI3 - 1 44740037 T G 0 0 0 0 1 0 1
AutG55182RNF220 - 1 44902176 C - 0 0 0 0 1 0 1
AutG8643PTCH2 - 1 45295296 C T 0 0 0 0 1 0 1
AutG10489LRRC41 - 1 46751660 G A 0 0 0 0 1 0 1
AutG1580CYP4B1 - 1 47280830 A G 0 0 0 0 1 0 1
AutG260293CYP4X1 - 1 47498961 G A 0 0 0 0 1 0 1
AutG11124FAF1 - 1 51078223 G A 0 0 0 0 1 0 1
AutG26027ACOT11 - 1 55050353 G A 0 0 0 0 1 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