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
AutG2904GRIN2Brs980365 1 13820027 T A 0 1 0 0 0 0 1 Positive
AutG27255CNTN6rs9878022 3 1143424 T C 0 1 0 0 0 0 1 Positive
AutG627BDNFrs988748 1 27724745 C C 0 1 0 0 0 0 1 Positive
AutG91584PLXNA4rs1000058 - - - - 1 0 0 0 0 0 1 Positive
rs1000104 - - - - 1 0 0 0 0 0 1
AutGCCSER1rs10021524 - - - - 1 0 0 0 0 0 1 Positive
rs10035131 5 26229996 A A 1 0 0 0 0 0 1 Negative
rs10042810 - - - - 1 0 0 0 0 0 1
rs10058083 5 25894398 G A 1 0 0 0 0 0 1 Positive
rs10072518 5 26064803 C C 1 0 0 0 0 0 1 Positive
AutG5562PRKAA1rs10074991 5 40790551 G A 1 0 0 0 0 0 1 Negative
AutG2185PTK2Brs10097861 8 27188518 G A 1 0 0 0 0 0 1 Positive
AutG145282MIPOL1rs10129645 1 37858832 A A 1 0 0 0 0 0 1 Negative
AutGNoners10185592 2 206694181 A A 1 0 0 0 0 0 1 Positive
AutG79623GALNT14rs10205350 2 31146497 G G 1 0 0 0 0 0 1 Positive
rs10415705 - - - - 1 0 0 0 0 0 1
AutG60680CELF5rs10424718 - - - - 1 0 0 0 0 0 1 Positive
AutG79158GNPTABrs10444509 1 102214030 T C 1 0 0 0 0 0 1 Positive
AutG140733MACROD2rs10446030 2 14727386 A A 1 0 0 0 0 0 1 Positive
rs10461556 5 51871322 C C 1 0 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