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
AutG699BUB1 - 2 111398623 T C 0 0 1 0 0 0 1
AutG10018BCL2L11 - 2 111881511 G A 0 0 1 0 0 0 1
AutG10461MERTK - 2 112725700 T G 0 0 1 0 0 0 1
AutG10461MERTK - 2 112732928 A G 0 0 1 0 0 0 1
AutG6574SLC20A1 - 2 113417216 G T 0 0 1 0 0 0 1 Positive
AutG23550PSD4 - 2 113940833 C T 0 0 1 0 0 0 1
AutG8685MARCO - 2 119739065 G A 0 0 1 0 0 0 1 Positive
AutG2736GLI2 - 2 121742110 A T 0 0 1 0 0 0 1
AutG23332CLASP1 - 2 122122758 T G 0 0 1 0 0 0 1 Positive
AutG129684CNTNAP5 - 2 125647237 T C 0 0 1 0 0 0 1
AutG274BIN1 - 2 127818230 C T 0 0 1 0 0 0 1
AutG339761CYP27C1 - 2 127944869 AC A 0 0 1 0 0 0 1
AutG10746MAP3K2 - 2 128095324 CTCT C 0 0 1 0 0 0 1
AutG4648MYO7B - 2 128322961 G A 0 0 1 0 0 0 1
AutG4648MYO7B - 2 128366324 C T 0 0 1 0 0 0 1
AutG4648MYO7B - 2 128381815 C Y 0 0 1 0 0 0 1
AutG4648MYO7B - 2 128384626 C T 0 0 1 0 0 0 1 Positive
AutG4648MYO7B - 2 128388847 G C 0 0 1 0 0 0 1 Positive
AutG55339WDR33 - 2 128481973 AT A 0 0 1 0 0 0 1
AutG55339WDR33 - 2 128522378 G A 0 0 1 0 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