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
AutG6528SLC5A5 - 19 17983447 C T 0 0 1 0 0 0 1 Positive
AutG23031MAST3 - 19 18232563 C T 0 0 1 0 0 0 1 Positive
AutG5296PIK3R2 - 19 18273859 G A 0 0 1 0 0 0 1 Positive
AutG80726KIAA1683 - 19 18377276 C T 0 0 1 0 0 0 1
AutG51477ISYNA1 - 19 18546538 CCCCGCG C 0 0 1 0 0 0 1
AutG8178ELL - 19 18557559 G C 0 0 1 0 0 0 1
AutG8178ELL - 19 18576690 C T 0 0 1 0 0 0 1
AutG55295KLHL26 - 19 18778486 C T 0 0 1 0 0 0 1
AutG23373CRTC1 - 19 18870899 G C 0 0 1 0 0 0 1
AutG23373CRTC1 - 19 18886533 C T 0 0 1 0 0 0 1
AutG5976UPF1 - 19 18958640 C G 0 0 1 0 0 0 1
AutG5976UPF1 - 19 18962981 C T 0 0 1 0 0 0 1 Positive
AutG5976UPF1 - 19 18965942 G A 0 0 1 0 0 0 1 Positive
AutG1463NCAN - 19 19338832 C G 0 0 1 0 0 0 1
AutG1463NCAN - 19 19359533 T C 0 0 1 0 0 0 1 Positive
AutG57794SUGP1 - 19 19390056 G A 0 0 1 0 0 0 1
AutG23383MAU2 - 19 19460025 C T 0 0 1 0 0 0 1 Positive
AutG80714PBX4 - 19 19680287 C T 0 0 1 0 0 0 1 Positive
AutG148213ZNF681 - 19 23927743 A C 0 0 1 0 0 0 1 Positive
AutG147991DPY19L3 - 19 32971365 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