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
rs12706933 - - - - 0 1 0 0 0 0 1
AutG3082HGFrs12707453 - - - - 0 1 0 0 0 0 1 Negative
AutG2554GABRA1rs12716387 - - - - 0 1 0 0 0 0 1 Negative
AutG1644DDCrs12718541 - - - - 0 1 0 0 0 0 1 Negative
AutG1600DAB1rs12740765 1 58506303 C C 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs12753927 - - - - 0 1 0 0 0 0 1 Positive
AutG54538ROBO4rs12823 1 124754611 T A 0 1 0 0 0 0 1 Positive
AutGAPOER2rs1288489 1 53772544 C C 0 1 0 0 0 0 1 Negative
AutGAPOER2rs1288523 1 53788874 G A 0 1 0 0 0 0 1 Negative
AutG56997ADCK3rs1289474 - - - - 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs12912421 1 26902596 G A 0 1 0 0 0 0 1 Positive
AutG55567DNAH3rs12920797 1 20983102 G A 0 1 0 0 0 0 1 Negative
AutG7385UQCRC2rs12922362 1 21989878 C A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs12922749 1 24032105 T C 0 1 0 0 0 0 1 Positive
-rs12922872 1 21242255 A A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs12928700 1 23875577 A A 0 1 0 0 0 0 1 Positive
AutG8913CACNA1Grs12946808 1 48647011 T G 0 1 0 0 0 0 1 Positive
AutG2354FOSBrs12972892 1 45982373 T G 0 1 0 0 0 0 1 Negative
AutG1523CUTL1rs1297632 - - - - 0 1 0 0 0 0 1 Negative
AutG1387CREBBPrs130008 1 3781952 C C 0 1 0 0 0 0 1 Positive

Page Counts: 14/584  
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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