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
AutG4781NFIB - 9 14307297 G A 0 0 0 1 0 0 1 Positive
AutG6194RPS6 - 9 19378427 G A 0 0 0 1 0 0 1
AutG3441IFNA4 - 9 21187406 G C 0 0 0 1 0 0 1
AutG138724C9orf131 - 9 35042438 C T 0 0 0 1 0 0 1
AutG768CA9 - 9 35680802 G A 0 0 0 1 0 0 1
AutG138199C9orf41 - 9 77599844 C T 0 0 0 1 0 0 1
AutG3190HNRNPK - 9 86585713 C T 0 0 0 1 0 0 1
AutG286238LOC286238 - 9 91262282 A G 0 0 0 1 0 0 1
AutG27130INVS - 9 103002453 T C 0 0 0 1 0 0 1
AutG55151TMEM38B - 9 108536306 C T 0 0 0 1 0 0 1
AutG5998RGS3 - 9 116267745 C T 0 0 0 1 0 0 1
AutG2934GSN - 9 124073052 C T 0 0 0 1 0 0 1 Positive
AutG169611OLFML2A - 9 127549361 T C 0 0 0 1 0 0 1
AutG2022ENG - 9 130587537 G A 0 0 0 1 0 0 1
- 9 131599143 A G 0 0 0 1 0 0 1
AutG23511NUP188 - 9 131756681 C T 0 0 0 1 0 0 1 Positive
AutG6837MED22 - 9 136208379 G A 0 0 0 1 0 0 1
AutG157922CAMSAP1 - 9 138713882 T C 0 0 0 1 0 0 1
AutG9919SEC16A - 9 139371117 G A 0 0 0 1 0 0 1
AutG4851NOTCH1 - 9 139390959 G A 0 0 0 1 0 0 1

Page Counts: 438/584  
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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