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
AutG2739GLO1rs1130534 6 38650588 T A 0 1 0 0 0 0 1 Negative
AutG5307PITX1rs1131611 - - - - 0 1 0 0 0 0 1 Positive
AutG4204MECP2rs11348580 X 153311400 G - 0 1 0 0 0 0 1 Positive
AutG4128MAOArs1137070 X 43603391 T C 0 1 0 0 0 0 1 Negative
AutG4843NOS2rs1137933 1 26105932 G C 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs1143676 2 182395345 G A 0 1 0 0 0 0 1 Positive
AutG4204MECP2rs11465839 X 153280267 A C 0 1 0 0 0 0 1 Positive
AutG3359HTR3Ars1150220 1 113857886 G C 0 1 0 0 0 0 1 Positive
-rs1151805 - - - - 0 1 0 0 0 0 1 Positive
AutG824CAPN2rs1153950 - - - - 0 1 0 0 0 0 1 Negative
AutG3351HTR1Brs11568817 6 78173382 A G 0 1 0 0 0 0 1 Negative
AutG1950EGFrs11568994 4 110897535 G A 0 1 0 0 0 0 1 Negative
AutG952CD38rs11574927 4 15840243 A A 0 1 0 0 0 0 1 Negative
-rs11584057 - - - - 0 1 0 0 0 0 1 Negative
-rs11584966 - - - - 0 1 0 0 0 0 1 Negative
AutG27185DISC1rs11585959 - - - - 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs11590496 - - - - 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs11631143 1 27764402 A A 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs11631421 1 26951338 T C 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs11631444 1 27668224 A A 0 1 0 0 0 0 1 Negative

Page Counts: 8/584  
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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