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
AutG5493PPL - 16 4945323 C T 0 0 1 0 0 0 1 Positive
AutG54715RBFOX1 - 16 6908075 - - 0 0 1 0 0 0 1
AutG5373PMM2 - 16 8906896 C A 0 0 1 0 0 0 1
AutG7874USP7 - 16 9002226 T C 0 0 1 0 0 0 1
AutG29066ZC3H7A - 16 11845394 A G 0 0 1 0 0 0 1
AutG92017SNX29 - 16 12450055 C T 0 0 1 0 0 0 1
AutG55313CPPED1 - 16 12875152 T G 0 0 1 0 0 0 1 Positive
AutG729993SHISA9 - 16 13219054 A C 0 0 1 0 0 0 1
AutG2072ERCC4 - 16 14041797 A C 0 0 1 0 0 0 1
AutG57496MKL2 - 16 14340619 C T 0 0 1 0 0 0 1
AutG57496MKL2 - 16 14342897 T C 0 0 1 0 0 0 1 Positive
AutG5073PARN - 16 14723490 C T 0 0 1 0 0 0 1 Positive
AutG23042PDXDC1 - 16 15100370 A G 0 0 1 0 0 0 1
AutG23042PDXDC1 - 16 15112743 G A 0 0 1 0 0 0 1 Positive
AutG9665KIAA0430 - 16 15719503 C A 0 0 1 0 0 0 1
AutGNDE1,MYH11 - 16 15808946 G A 0 0 1 0 0 0 1
AutG4629MYH11 - 16 15844149 G A 0 0 1 0 0 0 1 Positive
AutG64131XYLT1 - 16 17228330 C T 0 0 1 0 0 0 1 Positive
AutG79905TMC7 - 16 19020639 C T 0 0 1 0 0 0 1
AutG51573GDE1 - 16 19522205 G C 0 0 1 0 0 0 1

Page Counts: 226/584  
226 First  Previous  225  226  227  Next  Last

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