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
-rs11644537 1 19393831 T C 0 1 0 0 0 0 1 Negative
AutG55567DNAH3rs11644828 1 20997914 T C 0 1 0 0 0 0 1 Negative
AutG146177VWA3Ars11645734 1 22166626 A A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs11646426 1 23883478 A A 0 1 0 0 0 0 1 Positive
-rs11648181 1 22018065 G A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs11648535 1 24085524 G A 0 1 0 0 0 0 1 Positive
AutG124152IQCKrs11648873 1 19795409 A A 0 1 0 0 0 0 1 Negative
AutG3690ITGB3rs11650072 1 45393665 T C 0 1 0 0 0 0 1 Positive
AutG3690ITGB3rs11657517 1 45343713 C C 0 1 0 0 0 0 1 Positive
AutG5020OXTrs11697250 2 3048537 G A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs11706648 3 8796547 A A 0 1 0 0 0 0 1 Positive
AutG27094KCNMB3rs1170672 3 178968660 T C 0 1 0 0 0 0 1 Negative
AutG1845DUSP3rs11713 1 41845824 G C 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs11718867 3 179175244 G G 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs11720238 3 8791339 G A 0 1 0 0 0 0 1 Positive
AutG10923SUB1rs11744644 5 32604621 G C 0 1 0 0 0 0 1 Negative
AutG4233METrs11767567 - - - - 0 1 0 0 0 0 1 Positive
AutG4010LMX1Brs11793373 9 129407543 G A 0 1 0 0 0 0 1 Positive
AutG83692CD99L2rs11796490 X 150058159 A A 0 1 0 0 0 0 1 Positive
AutG29097CNIH4rs11803981 - - - - 0 1 0 0 0 0 1 Negative

Page Counts: 9/584  
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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