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
AutG5579PRKCBrs2878156 1 23903463 C C 0 1 0 0 0 0 1 Positive
AutG3685ITGAVrs2887831 2 187541810 T C 0 1 0 0 0 0 1 Negative
AutG2020EN2rs28999108 - - - - 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs2902434 3 178356096 A A 0 1 0 0 0 0 1 Positive
AutG136259KLF14rs290805 - - - - 0 1 0 0 0 0 1 Negative
AutG3084NRG1rs2919381 8 32563924 A C 0 1 0 0 0 0 1
AutG8631SKAP1rs2924254 1 46348384 T C 0 1 0 0 0 0 1 Positive
AutG55718POLR3Ers2926362 1 22330038 T C 0 1 0 0 0 0 1 Negative
AutG54996MOSC2rs2935225 - - - - 0 1 0 0 0 0 1 Negative
AutG3084NRG1rs2954041 8 32522626 G G 0 1 0 0 0 0 1
AutG2561GABRB2rs2962407 - - - - 0 1 0 0 0 0 1 Positive
AutG2561GABRB2rs2962425 - - - - 0 1 0 0 0 0 1 Positive
AutG4747NEFLrs2979687 8 24814403 T A 0 1 0 0 0 0 1 Positive
AutG4747NEFLrs2979704 8 24809067 C C 0 1 0 0 0 0 1 Positive
AutG149111CNIH3rs3012185 - - - - 0 1 0 0 0 0 1 Positive
AutG6505SLC1A1rs301430 9 4576680 T C 0 1 0 0 0 0 1 Positive
AutG6505SLC1A1rs301434 9 4582082 C A 0 1 0 0 0 0 1 Positive
AutG6505SLC1A1rs301979 9 4576851 G C 0 1 0 0 0 0 1 Positive
AutG1621DBHrs3025388 9 136503256 A A 0 1 0 0 0 0 1 Negative
AutG1387CREBBPrs3025684 1 3795363 G A 0 1 0 0 0 0 1 Positive

Page Counts: 43/584  
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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