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
AutG57584ARHGAP21 - 10 24886431 CTT C 0 0 1 0 0 0 1
AutG56243KIAA1217 - 10 24802273 - - 0 0 1 0 0 0 1 Positive
AutG84898PLXDC2 - 10 20508633 A T 0 0 1 0 0 0 1
AutG8027STAM - 10 17770021 T C 0 0 1 0 0 0 1
AutG8027STAM - 10 17738824 CT C 0 0 1 0 0 0 1
AutG9200PTPLA - 10 17645573 G C 0 0 1 0 0 0 1
AutG8029CUBN - 10 17127755 G R 0 0 1 0 0 0 1
AutG8029CUBN - 10 16962087 C T 0 0 1 0 0 0 1
AutG6251RSU1 - 10 16806500 G A 0 0 1 0 0 0 1 Positive
AutG8516ITGA8 - 10 15634273 G A 0 0 1 0 0 0 1
AutG64421DCLRE1C - 10 14977449 C G 0 0 1 0 0 0 1
AutG55691FRMD4A - 10 13852928 G A 0 0 1 0 0 0 1
AutG8559PRPF18 - 10 13629108 A G 0 0 1 0 0 0 1
AutG57118CAMK1D - 10 12595343 C A 0 0 1 0 0 0 1 Positive
AutG57118CAMK1D - 10 12595287 G A 0 0 1 0 0 0 1
AutG10659CELF2 - 10 11330451 C T 0 0 1 0 0 0 1
AutG10659CELF2 - 10 11299713 - A 0 0 1 0 0 0 1
AutG10659CELF2 - 10 11299712 GAAAA GAAAAA 0 0 1 0 0 0 1
AutG57713SFMBT2 - 10 7213014 G A 0 0 1 0 0 0 1
AutG5209PFKFB3 - 10 6263395 C T 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