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
AutG23394ADNP - 20 49509038 G C 0 0 1 0 0 0 1
AutG23394ADNP - 20 49509094 * +T/* 0 0 1 0 0 0 1
AutG23394ADP - 20 49509094 G GT 0 0 1 0 0 0 1
AutG23394ADNP - 20 49510027 * -TT/* 0 0 1 0 0 0 1
AutG23394ADNP - 20 49510027 * 2D, -TT 0 0 1 0 0 0 1
AutG23394ADNP - 20 49510211 TTGAC T 0 0 1 0 0 0 1
AutG23394ADNP - 20 49510211 TTGACTGAC TTGAC 0 0 1 0 0 0 1
AutG23394ADNP - 20 49510213 TGAC - 0 0 1 0 0 0 1
AutG23394ADNP - 20 49510224 C CA 0 0 1 0 0 0 1
AutG23394ADNP - 20 49510578 G A 0 0 1 0 0 0 1
AutG23394ADNP - 20 49510602 CTCGGGCAT C 0 0 1 0 0 0 1
AutG23394ADNP - 20 49510619 A A/T 0 0 1 0 0 0 1
AutG23394ADP - 20 50075687 - - 0 0 1 0 0 0 1
AutG23394ADP - 20 50076620 - - 0 0 1 0 0 0 1
AutG10079ATP9A - 20 50221501 C A 0 0 1 0 0 0 1
AutG57167SALL4 - 20 50407792 G A 0 0 1 0 0 0 1
AutG128553TSHZ2 - 20 51872052 C T 0 0 1 0 0 0 1
AutG55816DOK5 - 20 53861038 C T 0 0 1 0 0 0 1
AutG7022TFAP2C - 20 55209316 T G 0 0 1 0 0 0 1
AutG56937PMEPA1 - 20 56463325 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