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
AutG1749DLX5rs1207735 - - - - 0 2 0 0 0 0 2 Positive
AutG1749DLX5rs1207739 - - - - 0 2 0 0 0 0 2 Positive
AutG4139MARK1rs12123306 - - - - 0 2 0 0 0 0 2 Positive
AutG4139MARK1rs12410279 - - - - 0 2 0 0 0 0 2 Positive
AutG1748DLX4rs12453270 1 48036039 T A 0 2 0 0 0 0 2 Negative
AutG4897NRCAMrs1269622 - - - - 0 2 0 0 0 0 2 Positive
AutG4897NRCAMrs1269627 - - - - 0 2 0 0 0 0 2 Positive
AutG4139MARK1rs12740310 - - - - 0 2 0 0 0 0 2 Positive
AutG2557GABRA4rs13151759 4 46995653 G G 0 2 0 0 0 0 2 Positive
AutG2557GABRA4rs13151769 4 46995660 G A 0 2 0 0 0 0 2 Positive
AutG2969GTF2Irs13227433 - - - - 0 2 0 0 0 0 2 Positive
AutG57194ATP10Crs1345098 1 26057622 G G 0 2 0 0 0 0 2 Positive
AutG121278TPH2rs1386492 1 72362265 C A 0 2 0 0 0 0 2 Negative
AutG121278TPH2rs1386494 1 72352543 T A 0 2 0 0 0 0 2 Negative
AutG2567GABRG3rs140671 1 27222098 C A 0 2 0 0 0 0 2 Positive
AutG2567GABRG3rs140675 1 27574116 T C 0 2 0 0 0 0 2 Negative
AutG2558GABRA5rs140682 1 27182357 T C 0 2 0 0 0 0 2 Negative
AutG2558GABRA5rs140685 1 27188459 C C 0 2 0 0 0 0 2 Negative
AutG27185DISC1rs1411771 - - - - 0 2 0 0 0 0 2 Positive
AutG2562GABRB3rs1432007 1 26810689 A A 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