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
AutG143884CWF19L2 - 11 107207297 G A 0 0 1 0 0 0 1 Positive
AutG60496AASDHPPT - 11 106240319 C G 0 0 1 0 0 0 1
AutG79659DYNC2H1 - 11 103024187 A C 0 0 1 0 0 0 1 Positive
AutG4317MMP8 - 11 102593283 G A 0 0 1 0 0 0 1 Positive
AutG330BIRC3 - 11 102201741 G T 0 0 1 0 0 0 1
AutG143872ARHGAP42 - 11 100814606 GCTGTT G 0 0 1 0 0 0 1
AutG53942CNTN5 - 11 99827672 C G 0 0 1 0 0 0 1
AutGNONE - 11 98744556 T C 0 0 1 0 0 0 1
AutG8898MTMR2 - 11 95580994 T C 0 0 1 0 0 0 1 Positive
AutG143686SESN3 - 11 94908722 A C 0 0 1 0 0 0 1
AutG23052ENDOD1 - 11 94843165 C T 0 0 1 0 0 0 1
AutG4361MRE11A - 11 94192626 G A 0 0 1 0 0 0 1
AutG341208HEPHL1 - 11 93796879 C G 0 0 1 0 0 0 1 Positive
AutG28970C11orf54 - 11 93483496 T G 0 0 1 0 0 0 1
AutG85459KIAA1731 - 11 93463107 C CA 0 0 1 0 0 0 1
AutGCEP295 - 11 93458987 T C 0 0 1 0 0 0 1
AutG85459KIAA1731 - 11 93412615 G A 0 0 1 0 0 0 1
AutG120114FAT3 - 11 92600180 - - 0 0 1 0 0 0 1 Positive
AutG120114FAT3 - 11 92533228 G A 0 0 1 0 0 0 1 Positive
AutG120114FAT3 - 11 92258103 A G 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