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
AutG774CACNA1B - 9 140772650 A G 0 0 1 0 0 0 1 Positive
AutG57554LRRC7 - 1 70291464 GTAA - 0 0 1 0 0 0 1
AutG783CACB2 - 10 18429670 T A 0 0 1 0 0 0 1
AutG3832KIF11 - 10 94373234 G - 0 0 1 0 0 0 1
AutGKMT2D - 12 49440421 G A 0 0 1 0 0 0 1
AutG196385DAH10 - 12 124383277 C A 0 0 1 0 0 0 1
AutG196385DAH10 - 12 124413069 C T 0 0 1 0 0 0 1
AutG7067THRA - 17 38245626 C T 0 0 1 0 0 0 1
AutG6326SC2A - 2 166222808 - - 0 0 1 0 0 0 1
AutG8864PER2 - 2 239164427 C T 0 0 1 0 0 0 1
AutG85358SHAK3 - 22 51121807 AG - 0 0 1 0 0 0 1
AutG22871LG1 - 3 173996749 G A 0 0 1 0 0 0 1
AutG287AK2 - 4 114280060 A T 0 0 1 0 0 0 1
AutG3796KIF2A - 5 61681329 G A 0 0 1 0 0 0 1
AutG5649REL - 7 103194122 G T 0 0 1 0 0 0 1
AutG5885RAD21 - 8 117874114 A G 0 0 1 0 0 0 1
AutG6812STXBP1 - 9 130444717 C - 0 0 1 0 0 0 1
AutG293SLC25A6 - X 1508377 A AG 0 0 1 0 0 0 1
AutG25878MXRA5 - X 3248358 - - 0 0 1 0 0 0 1 Positive
AutG25878MXRA5 - X 3248358 T C 0 0 1 0 0 0 1 Positive

Page Counts: 397/584  
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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