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
AutG1778DYNC1H1 - 14 102478291 C T 0 0 1 0 0 0 1 Positive
AutG1778DYNC1H1 - 14 102483206 A G 0 0 1 0 0 0 1 Positive
AutG1778DYNC1H1 - 14 102508760 G A 0 0 1 0 0 0 1
AutG1778DYNC1H1 - 14 102510723 A T 0 0 1 0 0 0 1
AutG91833WDR20 - 14 102675594 - - 0 0 1 0 0 0 1
AutG55778ZNF839 - 14 102808176 A C 0 0 1 0 0 0 1
AutG9895TECPR2 - 14 102913783 C G 0 0 1 0 0 0 1
AutG9578CDC42BPB - 14 103404494 C T 0 0 1 0 0 0 1
AutG9578CDC42BPB - 14 103405969 T C 0 0 1 0 0 0 1 Positive
AutG9578CDC42BPB - 14 103434646 G R 0 0 1 0 0 0 1
AutG9578CDC42BPB - 14 103442067 ATTTCTTT ATTT 0 0 1 0 0 0 1
AutG3831KLC1 - 14 104142064 C CG 0 0 1 0 0 0 1
AutG3831KLC1 - 14 104145901 G A 0 0 1 0 0 0 1
AutG23368PPP1R13B - 14 104205312 C T 0 0 1 0 0 0 1 Positive
AutG23368PPP1R13B - 14 104216291 AC A 0 0 1 0 0 0 1
AutG122622ADSSL1 - 14 105212710 G C 0 0 1 0 0 0 1
AutG283638KIAA0284 - 14 105353348 G A 0 0 1 0 0 0 1
AutG283638KIAA0284 - 14 105354151 - - 0 0 1 0 0 0 1
AutG122618PLD4 - 14 105398680 G T 0 0 1 0 0 0 1
AutG113146AHNAK2 - 14 105410213 C 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