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
AutG144165PRICKLE1 - 12 42864125 C G 0 0 0 0 1 0 1
AutG80070ADAMTS20 - 12 43860485 G A 0 0 0 0 1 0 1
AutGSCAF11 - 12 46320311 G T 0 0 0 0 1 0 1
AutG3890KRT84 - 12 52776827 C T 0 0 0 0 1 0 1
AutG8435SOAT2 - 12 53509433 G C 0 0 0 0 1 0 1 Positive
AutG9700ESPL1 - 12 53682043 C G 0 0 0 0 1 0 1
AutG53831GPR84 - 12 54756741 G - 0 0 0 0 1 0 1
AutG53831GPR84 - 12 54757199 A G 0 0 0 0 1 0 1
AutG4327MMP19 - 12 56232521 T C 0 0 0 0 1 0 1
AutG6821SUOX - 12 56398707 G T 0 0 0 0 1 0 1 Positive
AutG4640MYO1A - 12 57431366 C T 0 0 0 0 1 0 1
AutG10677AVIL - 12 58201505 C G 0 0 0 0 1 0 1
AutG56890MDM1 - 12 68720534 A G 0 0 0 0 1 0 1
AutG121278TPH2 - 12 72611436 T C 0 0 0 0 1 0 1
AutG5830PEX5 - 12 7362713 G A 0 0 0 0 1 0 1
AutG11010GLIPR1 - 12 75892479 C T 0 0 0 0 1 0 1
AutG6857SYT1 - 12 79462259 C G 0 0 0 0 1 0 1
AutG80184CEP290 - 12 88472996 C T 0 0 0 0 1 0 1
AutG80184CEP290 - 12 88508258 T C 0 0 0 0 1 0 1
AutG1848DUSP6 - 12 89743821 T C 0 0 0 0 1 0 1

Page Counts: 459/584  
459 First  Previous  458  459  460  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