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
AutG7166TPH1rs1015445 1 17868673 T C 0 1 0 0 0 0 1 Positive
AutG6733SRPK2rs1019040 - - - - 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs1019190 1 7634872 A A 0 1 0 0 0 0 1 Negative
AutG91752ZNF804Ars1021043 2 185507421 A A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs1021385 1 24034578 A A 0 1 0 0 0 0 1 Positive
AutG4233METrs10234854 - - - - 0 1 0 0 0 0 1 Positive
AutG9732KIAA0716rs10235868 - - - - 0 1 0 0 0 0 1 Negative
AutG4233METrs10243024 - - - - 0 1 0 0 0 0 1 Positive
AutG26047CNTNAP2rs10244837 - - - - 0 1 0 0 0 0 1 Positive
AutG54715A2BP1rs1024650 1 7706993 G C 0 1 0 0 0 0 1 Negative
AutG5649RELNrs10262803 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs10272734 - - - - 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs1029937 1 27372097 G C 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs1034825 - - - - 0 1 0 0 0 0 1 Positive
AutG54715A2BP1rs1034977 1 7632494 C A 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs1034980 1 7633263 G G 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs1036132 1 26801801 G A 0 1 0 0 0 0 1 Positive
AutG2554GABRA1rs1037715 - - - - 0 1 0 0 0 0 1 Negative
AutG114960TSGA13rs1038638 - - - - 0 1 0 0 0 0 1 Positive
AutG7337UBE3Ars1041931 1 25577915 C C 0 1 0 0 0 0 1 Negative

Page Counts: 2/584  
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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