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
AutG414318C9orf106 - 9 132084673 CA C 0 0 1 0 0 0 1
AutG9536PTGES - 9 132501907 C Y 0 0 1 0 0 0 1
AutG25ABL1 - 9 133759724 T C 0 0 1 0 0 0 1 Positive
AutG10319LAMC3 - 9 133914290 A G 0 0 1 0 0 0 1 Positive
AutG10319LAMC3 - 9 133914290 A R 0 0 1 0 0 0 1 Positive
AutG10319LAMC3 - 9 133942350 - - 0 0 1 0 0 0 1 Positive
AutG10319LAMC3 - 9 133952690 A R 0 0 1 0 0 0 1
AutG8021NUP214 - 9 134000981 C G 0 0 1 0 0 0 1
AutG10585POMT1 - 9 134396829 C T 0 0 1 0 0 0 1 Positive
AutG10319LAMC3 - 9 134924469 A - 0 0 1 0 0 0 1
AutG10319LAMC3 - 9 134962869 A - 0 0 1 0 0 0 1
AutG84628NTNG2 - 9 135073659 G T 0 0 1 0 0 0 1 Positive
AutG23064SETX - 9 135172298 G C 0 0 1 0 0 0 1
AutG7270TTF1 - 9 135278051 T C 0 0 1 0 0 0 1
AutG6838SURF6 - 9 136201373 CTT C 0 0 1 0 0 0 1
AutGSTKLD1 - 9 136245993 G A 0 0 1 0 0 0 1
AutG11093ADAMTS13 - 9 136315045 G A 0 0 1 0 0 0 1
AutG7410VAV2 - 9 136633668 C T 0 0 1 0 0 0 1 Positive
AutG8019BRD3 - 9 136913560 C T 0 0 1 0 0 0 1 Positive
AutG10439OLFM1 - 9 138011670 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