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
AutG2969GTF2Irs2718270 - - - - 0 2 0 0 0 0 2 Positive
AutG5020OXTrs2740204 2 3062467 G A 0 2 0 0 0 0 2 Positive
AutG5020OXTrs2770378 2 3053514 G A 0 2 0 0 0 0 2 Negative
AutG4139MARK1rs2786617 - - - - 0 2 0 0 0 0 2 Positive
AutG4139MARK1rs2889895 - - - - 0 2 0 0 0 0 2 Positive
AutG2567GABRG3rs34315951 1 27732700 A A 0 2 0 0 0 0 2 Negative
AutG491ATP2B2rs35678 3 10379923 C C 0 2 0 0 0 0 2 Positive
AutG3082HGFrs3735520 - - - - 0 2 0 0 0 0 2 Negative
AutG4139MARK1rs3737296 - - - - 0 2 0 0 0 0 2 Positive
AutG4139MARK1rs3737297 - - - - 0 2 0 0 0 0 2 Positive
AutG27185DISC1rs3738401 - - - - 0 2 0 0 0 0 2 Positive
AutG4139MARK1rs3753873 - - - - 0 2 0 0 0 0 2 Positive
AutG2571GAD1rs3762555 2 171672395 C C 0 2 0 0 0 0 2 Positive
AutG4897NRCAMrs3763463 - - - - 0 2 0 0 0 0 2 Positive
AutG3676ITGA4rs3770112 2 182377541 G C 0 2 0 0 0 0 2 Positive
AutG2560GABRB1rs3775534 4 47322382 A A 0 2 0 0 0 0 2 Negative
AutG5579PRKCBrs3785392 1 23944483 A C 0 2 0 0 0 0 2 Positive
AutG2571GAD1rs3791878 2 171672191 G A 0 2 0 0 0 0 2 Positive
AutG2557GABRA4rs3792208 4 46974038 C A 0 2 0 0 0 0 2 Positive
AutG6532SLC6A4rs3794808 1 28531793 C A 0 2 0 0 0 0 2 Negative

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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