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
AutG221786FAM200A - 7 99145712 A G 0 0 0 0 1 0 1
AutG221785ZNF498 - 7 99217569 G A 0 0 0 0 1 0 1
AutG89122TRIM4 - 7 99489859 C G 0 0 0 0 1 0 1
AutG4176MCM7 - 7 99695873 G A 0 0 0 0 1 0 1
AutG9179AP4M1 - 7 99702946 C T 0 0 0 0 1 0 1
AutG157680VPS13B - 8 100388296 - C 0 0 0 0 1 0 1
AutG157680VPS13B - 8 100832259 A G 0 0 0 0 1 0 1
AutG157680VPS13B - 8 100833547 G A 0 0 0 0 1 0 1
AutG7534YWHAZ - 8 101936203-204 - T 0 0 0 0 1 0 1
AutG203076C8orf74 - 8 10557940-941 - C 0 0 0 0 1 0 1
AutG114788CSMD3 - 8 113599372 A C 0 0 0 0 1 0 1
AutGLINC00536 - 8 117022522 - G 0 0 0 0 1 0 1
AutGLINC00536 - 8 117022525 T C 0 0 0 0 1 0 1
AutG114ADCY8 - 8 131921998 G A 0 0 0 0 1 0 1
AutG114ADCY8 - 8 132658926 TAAA - 0 0 0 0 1 0 1
AutG3786KCNQ3 - 8 133142164 C T 0 0 0 0 1 0 1
AutG169044COL22A1 - 8 139815174 C G 0 0 0 0 1 0 1
AutG83696TRAPPC9 - 8 140744276 G T 0 0 0 0 1 0 1
AutG57210SLC45A4 - 8 142228160 G A 0 0 0 0 1 0 1
AutG389690FLJ43860 - 8 142500315 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