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
AutG55799CACNA2D3 - 3 55108254 T C 0 0 1 0 0 0 1
AutG7474WNT5A - 3 55504413 A R 0 0 1 0 0 0 1
AutG50650ARHGEF3 - 3 57069148 G A 0 0 1 0 0 0 1
AutG54756IL17RD - 3 57133512 A G 0 0 1 0 0 0 1
AutG142686ASB14 - 3 57321934 GAA G 0 0 1 0 0 0 1
AutG142686ASB14 - 3 57321936 AA - 0 0 1 0 0 0 1
AutG201625DNAH12 - 3 57357136 C T 0 0 1 0 0 0 1
AutG201627FAM116A - 3 57614045 C T 0 0 1 0 0 0 1
AutG2317FLNB - 3 58095814 C T 0 0 1 0 0 0 1 Positive
AutG2317FLNB - 3 58139188 T C 0 0 1 0 0 0 1 Positive
AutG2317FLNB - 3 58145363 A C 0 0 1 0 0 0 1 Positive
AutG5793PTPRG - 3 62258653 T C 0 0 1 0 0 0 1 Positive
AutG55079FEZF2 - 3 62356982 G R 0 0 1 0 0 0 1
AutG9861PSMD6 - 3 63996422 C T 0 0 1 0 0 0 1
AutG4286MITF - 3 70190662 T C 0 0 1 0 0 0 1
AutG27086FOXP1 - 3 71019886 - CTGTAAAGCTGCACTGTAAAGCTGCAT 0 0 1 0 0 0 1
AutG27086FOXP1 - 3 71027145 G GGACTT 0 0 1 0 0 0 1
AutG27086FOXP1 - 3 71050170 - - 0 0 1 0 0 0 1
AutG27086FOXP1 - 3 71344697 C T 0 0 1 0 0 0 1
AutG6092ROBO2 - 3 78195201 G T 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