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
AutG57194ATP10Crs4559881 1 25988162 C G 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs4565946 1 72336769 C C 0 1 0 0 0 0 1 Negative
AutG4915NTRK2rs4578034 9 87587782 C C 0 1 0 0 0 0 1 Positive
AutG3688ITGB1rs4587680 1 33200782 C C 0 1 0 0 0 0 1 Negative
AutG64221ROBO3rs4606490 1 124742731 C C 0 1 0 0 0 0 1 Positive
AutG5649RELNrs4621738 - - - - 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs4632100 1 27049732 G A 0 1 0 0 0 0 1 Positive
AutG1312COMTrs4633 2 19950235 C C 0 1 0 0 0 0 1 Negative
AutG3690ITGB3rs4634 1 45369789 G A 0 1 0 0 0 0 1 Negative
AutG54538ROBO4rs4635093 1 124759644 T G 0 1 0 0 0 0 1 Positive
AutG1312COMTrs4646312 2 19948337 T C 0 1 0 0 0 0 1 Negative
AutG218ALDH3A1rs4646787 1 19649249 A C 0 1 0 0 0 0 1 Negative
-rs4653437 - - - - 0 1 0 0 0 0 1 Negative
AutG8476CDC42BPArs4653475 - - - - 0 1 0 0 0 0 1 Negative
AutG56997ADCK3rs4653776 - - - - 0 1 0 0 0 0 1 Negative
AutG3628INPP1rs4656 2 191224981 G A 0 1 0 0 0 0 1 Positive
AutG27347STK39rs4668030 2 169009051 T C 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs4686302 3 8809222 C C 0 1 0 0 0 0 1 Positive
AutG2555GABRA2rs4695152 4 46381657 C C 0 1 0 0 0 0 1 Positive
AutG1950EGFrs4698803 4 110914427 A A 0 1 0 0 0 0 1 Negative

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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