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
AutG4664NAB1rs3771317 2 191543962 T A 0 1 0 0 0 0 1 Negative
AutG59345GNB4rs3774225 3 179118998 C C 0 1 0 0 0 0 1 Positive
AutG6999TDO2rs3775085 4 156823379 A A 0 1 0 0 0 0 1 Positive
AutG9555H2AFYrs3776203 - - - - 0 1 0 0 0 0 1 Positive
AutG2569GABRR1rs3777530 6 89909557 A G 0 1 0 0 0 0 1 Negative
AutG4698NDUFA5rs3779262 - - - - 0 1 0 0 0 0 1 Negative
AutG7472WNT2rs3779547 - - - - 0 1 0 0 0 0 1 Positive
AutG2643GCH1rs3783638 1 55348373 G A 0 1 0 0 0 0 1 Negative
AutG2643GCH1rs3783641 1 55360139 T A 0 1 0 0 0 0 1 Negative
AutG55623THUMPD1rs3785080 1 20752236 A A 0 1 0 0 0 0 1 Negative
AutG6530SLC6A2rs3785143 1 55695106 C C 0 1 0 0 0 0 1
AutG54715A2BP1rs3785189 1 7756445 G A 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs3785214 1 7717121 A G 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs3785228 1 7679580 G C 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs3785383 1 24046568 A C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs3785394 1 23926474 A C 0 1 0 0 0 0 1 Positive
AutG406ARNTLrs3789327 1 13385316 A C 0 1 0 0 0 0 1 Negative
AutG4520MTF1rs3790625 1 38304255 C C 0 1 0 0 0 0 1 Positive
AutG1746DLX2rs3791344 2 172964203 A A 0 1 0 0 0 0 1 Negative
AutG3685ITGAVrs3795865 2 187500682 A A 0 1 0 0 0 0 1 Negative

Page Counts: 49/584  
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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