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
AutG121278TPH2rs4760816 1 72372601 C C 0 3 0 0 0 0 3 Negative
AutG2560GABRB1rs6284 4 47322219 C A 0 3 0 0 0 0 3 Negative
AutG2560GABRB1rs6289 4 47408709 A A 0 3 0 0 0 0 3 Negative
AutG2560GABRB1rs6290 4 47408838 C C 0 3 0 0 0 0 3 Negative
AutG3356HTR2Ars6314 1 47409034 G C 0 3 0 0 0 0 3
AutG5307PITX1rs6872664 - - - - 0 3 0 0 0 0 3 Positive
AutG6804STX1Ars6951030 - - - - 0 3 0 0 0 0 3 Positive
AutG2567GABRG3rs7172534 1 27272999 C C 0 3 0 0 0 0 3 Negative
AutG1746DLX2rs743605 2 172967302 C A 0 3 0 0 0 0 3 Positive
AutG2562GABRB3rs754185 1 26887879 T A 0 3 0 0 0 0 3 Negative
AutG2557GABRA4rs7678338 4 46922107 T C 0 3 0 0 0 0 3 Positive
AutG1745DLX1rs788172 2 172953438 G A 0 3 0 0 0 0 3 Negative
AutG1745DLX1rs788173 2 172953460 G A 0 3 0 0 0 0 3 Negative
AutG27185DISC1rs821616 - - - - 0 3 0 0 0 0 3 Positive
AutG6804STX1Ars867500 - - - - 0 3 0 0 0 0 3 Positive
AutG2562GABRB3rs890317 1 26922201 A A 0 3 0 0 0 0 3 Negative
AutG2567GABRG3rs897173 1 27469901 A A 0 3 0 0 0 0 3 Negative
AutG6804STX1Ars941298 - - - - 0 3 0 0 0 0 3 Negative
AutG3360HTR4rs7725785 - - - - 0 3 0 0 0 0 3 Positive
AutG4076CAPRIN1 - 11 34107924 C T 0 0 3 0 0 0 3

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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