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
AutG952CD38rs3796863 4 15849986 G A 0 2 0 0 0 0 2 Negative
AutG3690ITGB3rs3809863 1 45385012 C C 0 2 0 0 0 0 2 Positive
AutG3690ITGB3rs3809865 1 45388586 T A 0 2 0 0 0 0 2
AutG5805PTSrs3819331 1 112099410 T C 0 2 0 0 0 0 2 Positive
AutG2020EN2rs3824067 - - - - 0 2 0 0 0 0 2 Positive
AutG2020EN2rs3824068 - - - - 0 2 0 0 0 0 2 Positive
AutG2571GAD1rs3828275 2 171682740 C A 0 2 0 0 0 0 2 Positive
AutG2560GABRB1rs3832300 4 47428335 - - 0 2 0 0 0 0 2 Negative
AutG4233METrs38841 - - - - 0 2 0 0 0 0 2 Positive
AutG4233METrs38849 - - - - 0 2 0 0 0 0 2 Positive
AutG1747DLX3rs3891034 1 48070225 C A 0 2 0 0 0 0 2 Negative
AutG5649RELNrs39353 - - - - 0 2 0 0 0 0 2 Negative
AutG4233METrs39748 - - - - 0 2 0 0 0 0 2 Positive
AutG4897NRCAMrs401433 - - - - 0 2 0 0 0 0 2 Negative
AutG4233METrs40238 - - - - 0 2 0 0 0 0 2 Positive
AutG4897NRCAMrs405945 - - - - 0 2 0 0 0 0 2 Negative
AutG140733MACROD2rs4141463 2 14747471 T C 0 2 0 0 0 0 2 Positive
AutG2571GAD1rs4389303 2 171719442 G G 0 2 0 0 0 0 2 Positive
AutG2560GABRB1rs4482737 4 47322190 T C 0 2 0 0 0 0 2 Negative
AutG5021OXTRrs4564970 3 8810408 G C 0 2 0 0 0 0 2 Positive

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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