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
AutG6638SNRPNrs752873 1 25101838 A A 0 1 0 0 0 0 1 Positive
AutG85358SHANK3rs756638 - - - - 0 1 0 0 0 0 1 Negative
AutG85358SHANK3rs75767639 - - - - 0 1 0 0 0 0 1 Negative
AutG85358SHANK3rs76268556 - - - - 0 1 0 0 0 0 1 Negative
AutG152330CNTN4rs7641285 3 2247857 C C 0 1 0 0 0 0 1 Positive
AutG90665TBL1Yrs768983 Y 6818291 C A 0 1 0 0 0 0 1 Negative
AutG2571GAD1rs769390 2 171693455 A A 0 1 0 0 0 0 1 Negative
AutG2571GAD1rs769395 2 171716803 G C 0 1 0 0 0 0 1 Negative
AutG5191PEX7rs7757102 - - - - 0 1 0 0 0 0 1 Positive
AutG5191PEX7rs7764028 - - - - 0 1 0 0 0 0 1 Positive
AutG11000SLC27A3rs77673307 - - - - 0 1 0 0 0 0 1 Negative
AutG2099ESR1rs7774230 - - - - 0 1 0 0 0 0 1 Positive
AutG26047CNTNAP2rs7804520 - - - - 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs78162420 1 72335380 C A 0 1 0 0 0 0 1 Positive
AutGLAT1rs78174881 1 87864849 C C 0 1 0 0 0 0 1 Positive
AutG139411PTCHD1rs7879275 X 23362743 A A 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs7888200 X 23389503 C C 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs7888572 X 23348954 A A 0 1 0 0 0 0 1 Negative
AutG53942CNTN5rs7942402 1 99593788 G G 0 1 0 0 0 0 1 Positive
AutG4908NTF3rs7956189 1 5605861 G A 0 1 0 0 0 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