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
AutG100132831LOC100132831 - X 40731617 G T 0 0 0 0 1 0 1
AutG100132831LOC100132831 - X 40731634 C T 0 0 0 0 1 0 1
AutG6853SYN1 - X 47466513 G C 0 0 0 0 1 0 1 Negative
AutG5935RBM3 - X 48432832 C G 0 0 0 0 1 0 1 Negative
AutG28952CCDC22 - X 49105970 G A 0 0 0 0 1 0 1 Positive
AutG89801PPP1R3F - X 49142473 G A 0 0 0 0 1 0 1 Positive
AutG64061TSPYL2 - X 53117400 A C 0 0 0 0 1 0 1 Negative
AutG8242KDM5C - X 53240828 A G 0 0 0 0 1 0 1
AutG10075HUWE1 - X 53630356 T A 0 0 0 0 1 0 1 Positive
AutG23133PHF8 - X 53966801 - - 0 0 0 0 1 0 1 Negative
AutG2245FGD1 - X 54476713 G T 0 0 0 0 1 0 1
AutG7216TRO - X 54956008 G A 0 0 0 0 1 0 1 Positive
AutG27301APEX2 - X 55027965 - - 0 0 0 0 1 0 1 Negative
AutG212ALAS2 - X 55039960 C T 0 0 0 0 1 0 1
AutG158584FAAH2 - X 57313299 T G 0 0 0 0 1 0 1
AutG139285FAM123B - X 63412635 C T 0 0 0 0 1 0 1 Positive
AutG1896EDA - X 68836277 T A 0 0 0 0 1 0 1 Positive
AutG57692MAGEE1 - X 75649236 A T 0 0 0 0 1 0 1 Positive
AutG546ATRX - X 76776310 - - 0 0 0 0 1 0 1 Positive
AutG546ATRX - X 76814250 C T 0 0 0 0 1 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