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
AutG8701DNAH11 - 7 21737764 A G 0 0 1 0 0 0 1
AutG8701DNAH11 - 7 21747364 G A 0 0 1 0 0 0 1
AutG8701DNAH11 - 7 21765433 C G 0 0 1 0 0 0 1
AutG55975KLHL7 - 7 23191720 C T 0 0 1 0 0 0 1
AutG11097NUPL2 - 7 23226786 T C 0 0 1 0 0 0 1
AutG51678MPP6 - 7 24681464 A G 0 0 1 0 0 0 1 Positive
AutG1687DFNA5 - 7 24742438 C T 0 0 1 0 0 0 1
AutG26031OSBPL3 - 7 24932001 G A 0 0 1 0 0 0 1
AutG9603NFE2L3 - 7 26224263 CAT CATAT 0 0 1 0 0 0 1
AutG9603NFE2L3 - 7 26224578 CCTTT C 0 0 1 0 0 0 1
AutG11112HIBADH - 7 27669027 TTCTC T 0 0 1 0 0 0 1
AutG1124CHN2 - 7 29519745 T TG 0 0 1 0 0 0 1
AutG84725PLEKHA8 - 7 30085846 C M 0 0 1 0 0 0 1
AutG84725PLEKHA8 - 7 30101537 A G 0 0 1 0 0 0 1
AutGPPP1R17 - 7 31726770 C G 0 0 1 0 0 0 1
AutGPPP1R17 - 7 31736721 C A 0 0 1 0 0 0 1
AutG51251NT5C3 - 7 33055445 A G 0 0 1 0 0 0 1
AutG27241BBS9 - 7 33376045 T C 0 0 1 0 0 0 1
AutG404744AAA1 - 7 34624235 T C 0 0 1 0 0 0 1
AutG9844ELMO1 - 7 37355576 C CA 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