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
AutG286148DPY19L4 - 8 95774047 G A 0 0 1 0 0 0 1
AutGLOC100616530 - 8 96703669 C A 0 0 1 0 0 0 1
AutGLOC100616530 - 8 96704612 C G 0 0 1 0 0 0 1
AutGLOC100616530 - 8 96705905 G A 0 0 1 0 0 0 1
AutG85453TSPYL5 - 8 98289514 * D:CTT 0 0 1 0 0 0 1
AutG4147MATN2 - 8 98991194 C T 0 0 1 0 0 0 1
AutG79815NIPAL2 - 8 99217397 A G 0 0 1 0 0 0 1
AutG157680VPS13B - 8 100029718 T G 0 0 1 0 0 0 1
AutG157680VPS13B - 8 100168821 G A 0 0 1 0 0 0 1
AutG157680VPS13B - 8 100264851 G T 0 0 1 0 0 0 1
AutG157680VPS13B - 8 100479648 C T 0 0 1 0 0 0 1 Positive
AutG157680VPS13B - 8 100583075 T A 0 0 1 0 0 0 1
AutG26166RGS22 - 8 100990260 C M 0 0 1 0 0 0 1
AutG286151FBXO43 - 8 101153250 G C 0 0 1 0 0 0 1
AutG26986PABPC1 - 8 101730092 T C 0 0 1 0 0 0 1
AutG51123ZNF706 - 8 102350279 C A 0 0 1 0 0 0 1
AutG51366UBR5 - 8 103281231 T C 0 0 1 0 0 0 1
AutG51366UBR5 - 8 103300396 C T 0 0 1 0 0 0 1
AutG51582AZIN1 - 8 103852065 A T 0 0 1 0 0 0 1
AutG25879DCAF13 - 8 104439424 - - 0 0 1 0 0 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