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
AutG81704DOCK8 - 9 407069 G G/T 0 0 0 0 1 0 1 Positive
AutG169792GLIS3 - 9 4118634 G C 0 0 0 0 1 0 1
AutG81704DOCK8 - 9 414871 T G/T 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 420449 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 426926 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 428390 G A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 428446 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 429850 C A/C 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 432233 T G/T 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 439258 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 443440 A A/C 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 443497 C C/T 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 446455 A A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 446533 G A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 446559 G A/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 463535 G C/G 0 0 0 0 1 0 1 Positive
AutG81704DOCK8 - 9 463555 C C/T 0 0 0 0 1 0 1 Positive
AutG26953RANBP6 - 9 6015243 C T 0 0 0 0 1 0 1
AutG23081KDM4C - 9 6849673 A G 0 0 0 0 1 0 1
AutG9414TJP2 - 9 71863039 G A 0 0 0 0 1 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


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