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
AutG221188GPR114 - 16 57604401 G R 0 0 1 0 0 0 1
AutG374739TEPP - 16 58011869 G R 0 0 1 0 0 0 1
AutG4324MMP15 - 16 58071464 C G 0 0 1 0 0 0 1
AutG4324MMP15 - 16 58079116 C T 0 0 1 0 0 0 1
AutG65009NDRG4 - 16 58538527 G A 0 0 1 0 0 0 1 Positive
AutG65009NDRG4 - 16 58540303 G A 0 0 1 0 0 0 1
AutG23019CNOT1 - 16 58589410 G S 0 0 1 0 0 0 1
AutG55238SLC38A7 - 16 58713960 C T 0 0 1 0 0 0 1 Positive
AutG644649LOC644649 - 16 61632762 C T 0 0 1 0 0 0 1
AutG1006CDH8 - 16 63592658 T C 0 0 1 0 0 0 1
AutG283867LOC283867 - 16 65609464 C G 0 0 1 0 0 0 1
AutG1003CDH5 - 16 66434715 C Y 0 0 1 0 0 0 1
AutG1783DYNC1LI2 - 16 66769989 C A 0 0 1 0 0 0 1 Positive
AutG1014CDH16 - 16 66946506 G C 0 0 1 0 0 0 1
AutG80262C16orf70 - 16 67168109 C T 0 0 1 0 0 0 1
AutGEXOC3L1 - 16 67221481 C T 0 0 1 0 0 0 1
AutG6553SLC9A5 - 16 67304643 A G 0 0 1 0 0 0 1 Positive
AutG25894PLEKHG4 - 16 67315085 C T 0 0 1 0 0 0 1
AutG146206RLTPR - 16 67685167 C T 0 0 1 0 0 0 1
AutG23644EDC4 - 16 67915593 G A 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