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
AutG56995TULP4 - 6 158735185 T C 0 0 0 1 0 0 1 Positive
AutG3482IGF2R - 6 160494299 G A 0 0 0 1 0 0 1
AutG4018LPA - 6 161056186 C T 0 0 0 1 0 0 1
AutG79981FRMD1 - 6 168462591 G A 0 0 0 1 0 0 1
AutG7058THBS2 - 6 169621605 G A 0 0 0 1 0 0 1
AutG7058THBS2 - 6 169628245 G A 0 0 0 1 0 0 1
AutG84629TNRC18 - 7 5347862 G A 0 0 0 1 0 0 1
AutG10392NOD1 - 7 30486597 G A 0 0 0 1 0 0 1
AutG5137PDE1C - 7 31855578 G T 0 0 0 1 0 0 1
AutG51314NME8 - 7 37889860 A T 0 0 0 1 0 0 1
AutG340286FAM183B - 7 38725566 C T 0 0 0 1 0 0 1
AutG23072HECW1 - 7 43540299 G A 0 0 0 1 0 0 1
AutG5425POLD2 - 7 44155381 T C 0 0 0 1 0 0 1
AutG3092HIP1 - 7 75177092 C T 0 0 0 1 0 0 1 Positive
AutG51657STYXL1 - 7 75625830 T C 0 0 0 1 0 0 1
AutG222183SRRM3 - 7 75894688 C A 0 0 0 1 0 0 1
AutG57157PHTF2 - 7 77572116 G A 0 0 0 1 0 0 1
AutG1021CDK6 - 7 92355021 C T 0 0 0 1 0 0 1
AutG55610CCDC132 - 7 92869270 G A 0 0 0 1 0 0 1
AutG1278COL1A2 - 7 94042413 G C 0 0 0 1 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