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
AutG5579PRKCBrs196002 1 23963237 A A 0 3 0 0 0 0 3 Positive
AutG6532SLC6A4rs2020937 1 28550757 A A 0 3 0 0 0 0 3 Positive
AutG57194ATP10Crs2066703 1 25962058 G C 0 3 0 0 0 0 3 Negative
AutG2567GABRG3rs208129 1 27424907 A A 0 3 0 0 0 0 3 Negative
AutG2898GRIK2 rs2227281 6 102503196 C C 0 3 0 0 0 0 3 Positive
AutG2898GRIK2rs2227283 6 102503317 G A 0 3 0 0 0 0 3 Positive
AutG5021OXTRrs2268495 3 8807535 G A 0 3 0 0 0 0 3 Positive
AutG2557GABRA4rs2280073 4 46967573 G C 0 3 0 0 0 0 3 Positive
AutG2560GABRB1rs2351299 4 47143365 G G 0 3 0 0 0 0 3 Negative
AutG5021OXTRrs237887 3 8797042 G A 0 3 0 0 0 0 3 Positive
AutG2560GABRB1rs3114084 4 47260338 C C 0 3 0 0 0 0 3 Negative
AutG2558GABRA5rs35399885 1 27160535 C C 0 3 0 0 0 0 3 Negative
AutG5579PRKCBrs3785387 1 23962293 G C 0 3 0 0 0 0 3 Positive
AutG2557GABRA4rs3792211 4 46994495 C A 0 3 0 0 0 0 3 Positive
rs4307059 5 25967703 T C 0 3 0 0 0 0 3
AutG4233METrs437 - - - - 0 3 0 0 0 0 3 Positive
-rs4519482 2 172963359 A A 0 3 0 0 0 0 3 Positive
AutG5021OXTRrs4686301 3 8798586 C C 0 3 0 0 0 0 3 Positive
AutG2560GABRB1rs4695226 4 47382920 C A 0 3 0 0 0 0 3 Negative
AutG6804STX1Ars4717806 - - - - 0 3 0 0 0 0 3 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