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
rs11730805 4 12174662 T G 2 0 0 0 0 0 2 Negative
rs11739167 5 25909764 C C 2 0 0 0 0 0 2 Positive
AutG403314APOBEC4rs1174657 - - - - 2 0 0 0 0 0 2 Negative
AutG403314APOBEC4rs1174658 - - - - 2 0 0 0 0 0 2 Negative
AutG26261FBXO24rs11768465 - - - - 2 0 0 0 0 0 2 Negative
AutG200150PLD5rs11809951 - - - - 2 0 0 0 0 0 2 Positive
AutG84502JPH4rs11844366 1 24041624 T C 2 0 0 0 0 0 2 Negative
rs11931812 4 59844473 T C 2 0 0 0 0 0 2 Negative
rs11954735 5 97801476 G A 2 0 0 0 0 0 2 Negative
rs12154111 6 113509151 C C 2 0 0 0 0 0 2 Negative
rs12187724 5 25935070 A A 2 0 0 0 0 0 2 Positive
rs1228439 9 132352178 A C 2 0 0 0 0 0 2 Negative
AutG2620GAS2rs12293188 1 22819374 G A 2 0 0 0 0 0 2 Negative
rs12446053 1 80964131 G A 2 0 0 0 0 0 2 Negative
AutG1008CDH10rs12518194 5 25951561 A A 2 0 0 0 0 0 2 Positive
AutG79811SLTMrs12595482 1 59195679 G A 2 0 0 0 0 0 2 Negative
AutG130940CCDC148rs12620556 2 159196771 T C 2 0 0 0 0 0 2 Negative
rs12864778 1 73960012 C A 2 0 0 0 0 0 2 Negative
AutG2595GANCrs12903690 1 42615305 A A 2 0 0 0 0 0 2 Negative
rs13007575 2 174678379 T C 2 0 0 0 0 0 2 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