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
AutG5151PDE8A - 15 85610406 T A 0 0 1 0 0 0 1
AutG64410KLHL25 - 15 86311780 G A 0 0 1 0 0 0 1 Positive
AutG123624AGBL1 - 15 88062115 G A 0 0 1 0 0 0 1
AutG64963MRPS11 - 15 89042292 C G 0 0 1 0 0 0 1
AutG55070DET1 - 15 89056251 G R 0 0 1 0 0 0 1
AutG145864HAPLN3 - 15 89424873 A AG 0 0 1 0 0 0 1
AutG11057ABHD2 - 15 89738662 G A 0 0 1 0 0 0 1
AutG5428POLG - 15 89869940 ACTCCTC A 0 0 1 0 0 0 1
AutG51458RHCG - 15 90026334 G A 0 0 1 0 0 0 1
AutG374655ZNF710 - 15 90611437 C G 0 0 1 0 0 0 1 Positive
AutG10509SEMA4B - 15 90763059 C T 0 0 1 0 0 0 1
AutG10509SEMA4B - 15 90771256 C T 0 0 1 0 0 0 1
AutG342132ZF774 - 15 90903409 GA G 0 0 1 0 0 0 1
AutG64784CRTC3 - 15 91150689 G T 0 0 1 0 0 0 1
AutG9899SV2B - 15 91825013 T A 0 0 1 0 0 0 1 Positive
AutG1106CHD2 - 15 93485051 G T 0 0 1 0 0 0 1
AutG1106CHD2 - 15 93510727 C T 0 0 1 0 0 0 1
AutG1106CHD2 - 15 93521585 - A 0 0 1 0 0 0 1
AutG1106CHD2 - 15 93524620 G A 0 0 1 0 0 0 1 Positive
AutG1106CHD2 - 15 93536154 G A 0 0 1 0 0 0 1 Positive

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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