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
AutG100996490LINC01206 - 3 182019991 T A 0 0 0 0 1 0 1
AutG100996490LINC01206 - 3 182019993 C A 0 0 0 0 1 0 1
AutG100996490LINC01206 - 3 182019996 A G 0 0 0 0 1 0 1
AutG1181CLCN2 - 3 184076909 C T 0 0 0 0 1 0 1
AutG2049EPHB3 - 3 184294872 A T 0 0 0 0 1 0 1
AutG1962EHHADH - 3 184910078 G A 0 0 0 0 1 0 1
AutG26998FETUB - 3 186369071 G C 0 0 0 0 1 0 1
AutG3827KNG1 - 3 186461524 C T 0 0 0 0 1 0 1
AutG8626TP63 - 3 189607152 C A 0 0 0 0 1 0 1
AutG84239ATP13A4 - 3 193185128 A G 0 0 0 0 1 0 1
AutG3280HES1 - 3 193854213 C T 0 0 0 0 1 0 1
AutG348793WDR53 - 3 196287884 A G 0 0 0 0 1 0 1
AutG9711KIAA0226 - 3 197409416 G A 0 0 0 0 1 0 1
AutG152330CNTN4 - 3 3076476 T C 0 0 0 0 1 0 1
AutG3680ITGA9 - 3 37785454 G A 0 0 0 0 1 0 1
AutG5333PLCD1 - 3 38051211 G A 0 0 0 0 1 0 1
AutG10168ZNF197 - 3 44683454 G C 0 0 0 0 1 0 1
AutG23395LARS2 - 3 45518073 C A 0 0 0 0 1 0 1
AutG3708ITPR1 - 3 4558240 C C/T 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4562755 A A/G 0 0 0 0 1 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