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
AutG84152PPP1R1Brs907094 1 37790371 G C 0 1 0 0 0 0 1 Positive
AutG8604SLC25A12rs908670 2 172690180 T C 0 1 0 0 0 0 1 Negative
AutG627BDNFrs908867 1 27745764 C A 0 1 0 0 0 0 1 Negative
-rs909083 1 21192098 A A 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs916678 1 23851114 C A 0 1 0 0 0 0 1 Positive
AutG6733SRPK2rs917114 - - - - 0 1 0 0 0 0 1 Negative
AutG3082HGFrs917183 - - - - 0 1 0 0 0 0 1 Negative
AutG4897NRCAMrs917251 - - - - 0 1 0 0 0 0 1 Positive
AutG54715A2BP1rs917544 1 7723572 T A 0 1 0 0 0 0 1 Negative
AutG5021OXTRrs918316 3 8798181 T C 0 1 0 0 0 0 1 Negative
AutG1644DDCrs921451 - - - - 0 1 0 0 0 0 1 Negative
AutG4430MYO1Brs921737 2 192150823 C C 0 1 0 0 0 0 1 Negative
AutG149111CNIH3rs924362 - - - - 0 1 0 0 0 0 1 Positive
AutG8604SLC25A12rs925881 2 172703641 C C 0 1 0 0 0 0 1 Negative
AutG627BDNFrs925946 1 27667202 T G 0 1 0 0 0 0 1 Negative
AutG1493CTLA4rs926169 2 204722752 G C 0 1 0 0 0 0 1 Negative
AutG2555GABRA2rs9291283 4 46371833 G A 0 1 0 0 0 0 1 Positive
AutG2570GABRR2rs9294432 6 90019967 C C 0 1 0 0 0 0 1 Negative
AutG9481SLC25A27rs9296505 6 46629841 A A 0 1 0 0 0 0 1 Negative
AutG267012DAOArs9301030 1 106126308 C C 0 1 0 0 0 0 1 Negative

Page Counts: 77/584  
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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