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
AutG321APBA2rs1565401 1 29396321 C C 0 1 0 0 0 0 1 Negative
AutGDMT1rs15897 - - - - 0 1 0 0 0 0 1 Positive
AutGDAPPER1rs160472 1 59115448 T A 0 1 0 0 0 0 1 Positive
AutG26047CNTNAP2rs1608628 - - - - 0 1 0 0 0 0 1 Positive
AutGDMT1rs161044 - - - - 0 1 0 0 0 0 1 Positive
AutGDAPPER1rs167481 1 59108678 T C 0 1 0 0 0 0 1 Positive
AutG1814DRD3rs167771 3 113876275 G A 0 1 0 0 0 0 1 Positive
AutG4885NPTX2rs1681248 - - - - 0 1 0 0 0 0 1 Negative
AutGLAT1rs16943300 1 87864269 G C 0 1 0 0 0 0 1 Positive
AutGLAT1rs16943310 1 87866118 C C 0 1 0 0 0 0 1 Positive
AutG22829NLGN4Yrs16980457 Y 16713318 G G 0 1 0 0 0 0 1 Positive
AutG22829NLGN4Yrs16980459 Y 16906683 A A 0 1 0 0 0 0 1 Positive
AutG139411PTCHD1rs16997602 X 23373101 A A 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs17110489 1 72348006 T C 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs17110741 1 72425010 T A 0 1 0 0 0 0 1 Positive
AutG6638SNRPNrs17178750 1 25071289 T G 0 1 0 0 0 0 1 Positive
AutG4909NTF4rs17206784 1 49571113 C C 0 1 0 0 0 0 1 Positive
AutGDMT1rs17216086 1 51384655 G C 0 1 0 0 0 0 1 Positive
AutG22829NLGN4Yrs17222251 Y 16713287 A A 0 1 0 0 0 0 1 Positive
AutG22829NLGN4Yrs17222272 Y 16836079 C A 0 1 0 0 0 0 1 Positive

Page Counts: 90/584  
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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