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
AutG129401NUP35rs3748884 2 184024190 A A 0 1 0 0 0 0 1 Negative
AutG129446CMYA3rs3749004 2 168107491 A A 0 1 0 0 0 0 1 Negative
AutG8646CHRDrs3749229 3 184099206 C A 0 1 0 0 0 0 1 Negative
AutG142PARP1rs3754370 - - - - 0 1 0 0 0 0 1 Negative
AutG6999TDO2rs3755907 4 156821875 G A 0 1 0 0 0 0 1 Positive
AutG6999TDO2rs3755908 4 156823306 T C 0 1 0 0 0 0 1 Positive
AutG6999TDO2rs3755910 4 156824600 C A 0 1 0 0 0 0 1 Positive
AutG9481SLC25A27rs3757241 6 46623698 T A 0 1 0 0 0 0 1 Negative
AutG15AANATrs3760138 1 74463109 G A 0 1 0 0 0 0 1 Positive
AutG3690ITGB3rs3760372 1 45380002 T C 0 1 0 0 0 0 1 Negative
AutG4747NEFLrs3761 8 24809216 G A 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs3764030 1 14133332 C A 0 1 0 0 0 0 1 Negative
AutG84152PPP1R1Brs3764352 1 37790939 C A 0 1 0 0 0 0 1 Positive
AutG4139MARK1rs3767323 - - - - 0 1 0 0 0 0 1 Positive
AutG23671TMEFF2rs3768702 2 193056737 C A 0 1 0 0 0 0 1 Negative
AutG3685ITGAVrs3768781 2 187481835 A A 0 1 0 0 0 0 1 Negative
AutG3676ITGA4rs3770105 2 182393759 C A 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs3770116 2 182364643 G A 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs3770136 2 182329460 C A 0 1 0 0 0 0 1 Positive
AutG8604SLC25A12rs3770445 2 172708919 T A 0 1 0 0 0 0 1 Negative

Page Counts: 48/584  
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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