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
AutG342132ZNF774 - 15 90904162 A G 0 0 2 0 0 0 2 Positive
AutG1106CHD2 - 15 93518170 A G 0 0 2 0 0 0 2 Positive
AutG1106CHD2 - 15 93524060 TAAAG T 0 0 2 0 0 0 2
AutG84231TRAF7 - 16 2226080 C T 0 0 2 0 0 0 2 Positive
AutG57496MKL2 - 16 14334157 C T 0 0 2 0 0 0 2 Positive
AutG124274GPR139 - 16 20043668 T C 0 0 2 0 0 0 2
AutG6340SCNN1G - 16 23224460 G A 0 0 2 0 0 0 2 Positive
AutG27327TNRC6A - 16 24835108 G T 0 0 2 0 0 0 2 Positive
AutG5595MAPK3 - 16 30128162 G A 0 0 2 0 0 0 2
AutG94160ABCC12 - 16 48175156 C T 0 0 2 0 0 0 2
AutG23090ZNF423 - 16 49670329 G A 0 0 2 0 0 0 2 Positive
AutG23090ZNF423 - 16 49671585 T C 0 0 2 0 0 0 2 Positive
AutG29800ZDHHC1 - 16 67432775 G A 0 0 2 0 0 0 2
AutG146760RTN4RL1 - 17 1840824 C T 0 0 2 0 0 0 2 Positive
AutGMETTL16 - 17 2371131 A G 0 0 2 0 0 0 2 Positive
AutG5430POLR2A - 17 7416351 T A 0 0 2 0 0 0 2 Positive
AutG242ALOX12B - 17 7983087 C T 0 0 2 0 0 0 2
AutG5187PER1 - 17 8044457 T C 0 0 2 0 0 0 2
AutG51168MYO15A - 17 18047280 A G 0 0 2 0 0 0 2 Positive
AutG254272TBC1D28 - 17 18541660 T A 0 0 2 0 0 0 2

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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