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
AutG23467NPTXR - 22 39216799 T C 0 0 1 0 0 0 1
AutG468ATF4 - 22 39917832 TC T 0 0 1 0 0 0 1
AutG8911CACNA1I - 22 40069085 G A 0 0 1 0 0 0 1 Positive
AutG8911CACNA1I - 22 40075841 G A 0 0 1 0 0 0 1
AutG23112TRC6B - 22 40660882 C G 0 0 1 0 0 0 1
AutG23112TNRC6B - 22 40661586 AAGAG A 0 0 1 0 0 0 1
AutG23112TNRC6B - 22 40669452 - GGGGGGGA 0 0 1 0 0 0 1
AutG27352SGSM3 - 22 40804965 A R 0 0 1 0 0 0 1
AutG57591MKL1 - 22 40816525 T C 0 0 1 0 0 0 1
AutG6767ST13 - 22 41223218 C T 0 0 1 0 0 0 1
AutG6767ST13 - 22 41231637 G C 0 0 1 0 0 0 1
AutG2033EP300 - 22 41564872 G GT 0 0 1 0 0 0 1
AutG10766TOB2 - 22 41832929 C T 0 0 1 0 0 0 1
AutGDESI1 - 22 42003310 C A 0 0 1 0 0 0 1 Positive
AutG6721SREBF2 - 22 42299006 G A 0 0 1 0 0 0 1
AutG4668AGA - 22 42463262 G A 0 0 1 0 0 0 1
AutG27352SGSM3 - 22 42472643 C - 0 0 1 0 0 0 1
AutG27352SGSM3 - 22 42475019 A - 0 0 1 0 0 0 1
AutG6942TCF20 - 22 42610275 G A 0 0 1 0 0 0 1
AutG80274SCUBE1 - 22 43607047 C T 0 0 1 0 0 0 1 Positive

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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