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
AutG341640FREM2 - 13 39264446 C T 0 0 1 0 0 0 1 Positive
AutG51569UFM1 - 13 39203633 T C 0 0 1 0 0 0 1
AutGLINC00366 - 13 39193399 G A 0 0 1 0 0 0 1
AutG7223TRPC4 - 13 38266412 C T 0 0 1 0 0 0 1 Positive
AutG23111SPG20 - 13 36909888 A G 0 0 1 0 0 0 1 Positive
AutGCCDC169-SOHLH2,S - 13 36764150 A C 0 0 1 0 0 0 1
AutG26960NBEA - 13 36180647 G A 0 0 1 0 0 0 1
AutG26960NBEA - 13 36129146 C T 0 0 1 0 0 0 1
AutG26960NBEA - 13 35883758 A G 0 0 1 0 0 0 1
AutG675BRCA2 - 13 32968952 G A 0 0 1 0 0 0 1 Positive
AutG10129FRY - 13 32761742 T C 0 0 1 0 0 0 1
AutG10129FRY - 13 32698445 T A 0 0 1 0 0 0 1
AutG84056KATNAL1 - 13 30815116 GATA GA 0 0 1 0 0 0 1
AutG255967PAN3 - 13 28816615 A G 0 0 1 0 0 0 1
AutG1045CDX2 - 13 28543127 A C 0 0 1 0 0 0 1 Positive
AutG1045CDX2 - 13 28542803 T C 0 0 1 0 0 0 1
AutG432369ATP5EP2 - 13 28519532 G A 0 0 1 0 0 0 1
AutG1024CDK8 - 13 26967554 A G 0 0 1 0 0 0 1 Positive
AutG6049RNF6 - 13 26788664 C T 0 0 1 0 0 0 1
AutG9107MTMR6 - 13 25823414 C A 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