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
AutG121278TPH2rs12231356 1 72409548 C C 0 1 0 0 0 0 1 Positive
AutG9379NRXN2rs12273892 - - - - 0 1 0 0 0 0 1 Positive
AutG6863TAC1rs1229434 - - - - 0 1 0 0 0 0 1 Negative
AutG4684NCAM1rs12418058 1 112908054 T C 0 1 0 0 0 0 1 Positive
AutG321APBA2rs12437939 1 29271013 A A 0 1 0 0 0 0 1 Negative
AutG6447SCG5rs12438604 1 32972997 C A 0 1 0 0 0 0 1 Negative
AutG4916NTRK3rs12440144 1 88579401 C A 0 1 0 0 0 0 1 Positive
AutG6638SNRPNrs12441116 1 25100340 T G 0 1 0 0 0 0 1 Positive
AutG321APBA2rs12443112 1 29269681 A A 0 1 0 0 0 0 1 Negative
AutGLAT1rs12444670 1 87870312 C C 0 1 0 0 0 0 1 Positive
AutG4698NDUFA5rs12539809 - - - - 0 1 0 0 0 0 1 Positive
AutG4698NDUFA5rs12666974 - - - - 0 1 0 0 0 0 1 Positive
AutG6505SLC1A1rs12682807 9 4574022 A A 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs1269621 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs1269627 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs1269642 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs1269655 - - - - 0 1 0 0 0 0 1 Positive
AutG2100ESR2rs1271572 1 64761917 A G 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs12814951 1 13700576 G G 0 1 0 0 0 0 1
AutG139411PTCHD1rs12848256 X 23375197 G G 0 1 0 0 0 0 1 Negative

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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