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
AutG10785WDR4 - 21 44270267 C G 0 0 0 0 1 0 1
AutGTSPEAR - 21 46096429 A G 0 0 0 0 1 0 1
AutG23181DIP2A - 21 47910511 A C 0 0 0 0 1 0 1
AutG23181DIP2A - 21 47977514 C T 0 0 0 0 1 0 1
AutG23181DIP2A - 21 47983832 C G 0 0 0 0 1 0 1
AutG6305SBF1 - 22 - G R 0 0 0 0 1 0 1 Positive
AutG51807TUBA8 - 22 18609783 G A 0 0 0 0 1 0 1
AutG23759PPIL2 - 22 22048931 G T 0 0 0 0 1 0 1
AutG23523CABIN1 - 22 24456455 C T 0 0 0 0 1 0 1
AutG23384SPECC1L - 22 24717510 C T 0 0 0 0 1 0 1
AutG23544SEZ6L - 22 26688831 - - 0 0 0 0 1 0 1 Negative
AutG24144TFIP11 - 22 26890166-169 AGAT - 0 0 0 0 1 0 1
AutG6525SMTN - 22 31487777 C T 0 0 0 0 1 0 1
AutG114904C1QTNF6 - 22 37578388 C T 0 0 0 0 1 0 1
AutG3956LGALS1 - 22 38071707 - - 0 0 0 0 1 0 1 Positive
AutG10521DDX17 - 22 38895486 C T 0 0 0 0 1 0 1
AutG6721SREBF2 - 22 42271378 A C 0 0 0 0 1 0 1
AutG27352SGSM3 - 22 42472722 T Y 0 0 0 0 1 0 1 Positive
AutG27352SGSM3 - 22 42474756 G R 0 0 0 0 1 0 1 Positive
AutG27341RRP7A - 22 42914033 T C 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