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
AutG2571GAD1rs11542313 - - - - 0 1 0 0 0 0 1 Negative
AutG3351HTR1Brs11568817 6 78173382 A G 0 1 0 0 0 0 1 Positive
AutG54413NLGN3rs115732184 X 70364904 C C 0 1 0 0 0 0 1
AutG121278TPH2rs11615016 1 72415994 A A 0 1 0 0 0 0 1 Positive
AutG54413NLGN3rs116209949 X 70364905 C A 0 1 0 0 0 0 1
AutG57194ATP10Ars11632263 1 26028702 C C 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs11637141 1 26792415 C C 0 1 0 0 0 0 1 Negative
AutG57194ATP10Ars11638039 1 26010966 T C 0 1 0 0 0 0 1 Negative
AutG6447SCG5rs11638903 1 32979723 A A 0 1 0 0 0 0 1 Negative
AutG4489MT1Ars11647171 - - - - 0 1 0 0 0 0 1 Negative
AutG10458BAIAP2rs11657991 1 79029748 G C 0 1 0 0 0 0 1 Positive
AutG10458BAIAP2rs11659017 1 79018379 C C 0 1 0 0 0 0 1 Positive
AutG2055CLN8rs116605307 8 1719510 G A 0 1 0 0 0 0 1 Negative
AutG9378NRXN1rs11885824 - - - - 0 1 0 0 0 0 1 Negative
AutG5803PTPRZ1rs1196475 - - - - 0 1 0 0 0 0 1 Negative
AutG5803PTPRZ1rs1196490 - - - - 0 1 0 0 0 0 1 Negative
AutG5803PTPRZ1rs1196509 - - - - 0 1 0 0 0 0 1 Negative
AutG6134RPL10rs12012747 X 153629155 A A 0 1 0 0 0 0 1 Negative
AutG5803PTPRZ1rs1206381 - - - - 0 1 0 0 0 0 1 Negative
AutG5803PTPRZ1rs1206504 - - - - 0 1 0 0 0 0 1 Negative

Page Counts: 85/584  
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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