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
AutG3690ITGB3rs2292867 1 45357489 C C 0 1 0 0 0 0 1 Negative
AutG1408CRY2rs2292912 1 45877688 C A 0 1 0 0 0 0 1 Negative
AutG4842NOS1rs2293044 1 117657991 G G 0 1 0 0 0 0 1 Negative
AutG4842NOS1rs2293054 1 117701714 A A 0 1 0 0 0 0 1 Negative
AutG2569GABRR1rs2297389 6 89915506 C A 0 1 0 0 0 0 1 Negative
AutG4843NOS2rs2297518 1 26096597 G A 0 1 0 0 0 0 1 Positive
AutGAPOER2rs2297657 1 53746595 A A 0 1 0 0 0 0 1 Negative
AutG3707ITPKBrs2298169 - - - - 0 1 0 0 0 0 1 Negative
AutG1950EGFrs2298999 4 110911907 T C 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2299378 - - - - 0 1 0 0 0 0 1 Negative
AutG5649RELNrs2299388 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs2299395 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs2299433 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs2299436 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs2299439 - - - - 0 1 0 0 0 0 1 Positive
AutG4233METrs2299440 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2300012 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2300039 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2300043 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2300045 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 36/584  
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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