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
AutG57563KLHL8 - 4 88099691 G A 0 0 0 0 1 0 1
AutGCCSER1 - 4 93143844 A T 0 0 0 0 1 0 1
AutG56606SLC2A9 - 4 9922187 G A 0 0 0 0 1 0 1
AutG134145FAM173B - 5 10236693 A G 0 0 0 0 1 0 1
AutGHISPPD1 - 5 102490411 - - 0 0 0 0 1 0 1 Negative
AutG23262PPIP5K2 - 5 102537298 C T 0 0 0 0 1 0 1
AutG1946EFNA5 - 5 106712689 - T 0 0 0 0 1 0 1
AutG1946EFNA5 - 5 106713048 C A 0 0 0 0 1 0 1
AutG9867PJA2 - 5 108714917 A T 0 0 0 0 1 0 1
AutG134430WDR36 - 5 110436345 A C 0 0 0 0 1 0 1
AutG1501CTNND2 - 5 11411650 T G 0 0 0 0 1 0 1 Positive
AutG57556SEMA6A - 5 115994876 C T 0 0 0 0 1 0 1
AutG1657DMXL1 - 5 118454514 T A 0 0 0 0 1 0 1
AutG1657DMXL1 - 5 118505962 C T 0 0 0 0 1 0 1
AutG1657DMXL1 - 5 118506652 C T 0 0 0 0 1 0 1
AutG93166PRDM6 - 5 122495236 G A 0 0 0 0 1 0 1
AutGLOC101927460 - 5 125235218 T C 0 0 0 0 1 0 1
AutGC5orf63 - 5 126515391 C T 0 0 0 0 1 0 1
AutG929CD14 - 5 140012397 G A 0 0 0 0 1 0 1
AutG23092ARHGAP26 - 5 142548021 TTTTTTTTTTT - 0 0 0 0 1 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