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
AutG283450C12orf51 - 12 112600303 C T 0 0 1 0 0 0 1
AutG23316CUX2 - 12 111748483 C T 0 0 1 0 0 0 1
AutG51184GPN3 - 12 110893672 T C 0 0 1 0 0 0 1 Positive
AutG488ATP2A2 - 12 110780170 C T 0 0 1 0 0 0 1
AutG488ATP2A2 - 12 110778685 C T 0 0 1 0 0 0 1
AutG9815GIT2 - 12 110397719 C A 0 0 1 0 0 0 1
AutG9815GIT2 - 12 110397718 G T 0 0 1 0 0 0 1 Positive
AutG59341TRPV4 - 12 110222127 G A 0 0 1 0 0 0 1 Positive
AutG84915C12orf34 - 12 110206986 C T 0 0 1 0 0 0 1
AutG4598MVK - 12 110023830 G T 0 0 1 0 0 0 1 Positive
AutG326625MMAB - 12 109996929 C T 0 0 1 0 0 0 1 Positive
AutG283446MYO1H - 12 109877458 C T 0 0 1 0 0 0 1 Positive
AutG32ACACB - 12 109644616 C T 0 0 1 0 0 0 1
AutG32ACACB - 12 109625794 C T 0 0 1 0 0 0 1
AutG84749USP30 - 12 109510128 C T 0 0 1 0 0 0 1
AutG54434SSH1 - 12 109182009 C T 0 0 1 0 0 0 1
AutG11153FICD - 12 108912728 G A 0 0 1 0 0 0 1
AutG11108PRDM4 - 12 108145614 A G 0 0 1 0 0 0 1 Positive
AutG11137PWP1 - 12 108090356 C T 0 0 1 0 0 0 1 Positive
AutG121551BTBD11 - 12 107937726 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