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
AutG218ALDH3A1rs2072330 1 19644472 A A 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2072403 - - - - 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs2072546 - - - - 0 1 0 0 0 0 1 Negative
AutG4232MESTrs2072573 - - - - 0 1 0 0 0 0 1 Positive
AutG26958COPG2rs2072575 - - - - 0 1 0 0 0 0 1 Positive
AutG7783ZP2rs2072620 1 21216033 C C 0 1 0 0 0 0 1 Negative
AutG5664PSEN2rs2073489 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2073551 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs2073557 - - - - 0 1 0 0 0 0 1 Positive
AutG7249TSC2rs2073636 1 2105055 A C 0 1 0 0 0 0 1 Negative
AutG1621DBHrs2073833 9 136520282 G C 0 1 0 0 0 0 1 Negative
AutG51573GDE1rs2074170 1 19521938 A A 0 1 0 0 0 0 1 Negative
AutG6296ACSM3rs2074541 1 20789335 G A 0 1 0 0 0 0 1 Negative
AutG3082HGFrs2074724 - - - - 0 1 0 0 0 0 1 Negative
AutG7249TSC2rs2074968 1 2110571 C C 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2075038 - - - - 0 1 0 0 0 0 1 Positive
-rs2075521 1 21222941 C A 0 1 0 0 0 0 1 Negative
AutG2558GABRA5rs2075716 1 27114904 T C 0 1 0 0 0 0 1 Positive
AutG1119CKIrs2075983 2 38690698 A A 0 1 0 0 0 0 1 Negative
AutG1119CKIrs2075984 2 38690889 C A 0 1 0 0 0 0 1 Negative

Page Counts: 29/584  
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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