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
AutG64221ROBO3rs7951801 1 124734728 G A 0 1 0 0 0 0 1 Positive
AutG3356HTR2Ars7997977 1 47470266 T C 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs8025575 1 26788083 G C 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs8031708 1 27744850 A A 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs8037653 1 26844600 G G 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs8042276 1 27694075 G A 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs8043244 1 27508810 G A 0 1 0 0 0 0 1 Negative
AutG2903GRIN2Ars8049651 - - - - 0 1 0 0 0 0 1 Negative
-rs8050022 1 87825675 C C 0 1 0 0 0 0 1 Negative
AutG146183OTOArs8050407 1 21740274 C C 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs8051750 1 24071144 G A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs8058691 1 24023442 G C 0 1 0 0 0 0 1 Positive
AutG55567DNAH3rs8059938 1 20945936 C C 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs8060733 1 7632880 A A 0 1 0 0 0 0 1 Negative
AutG79838TMC5rs8063463 1 19496311 A A 0 1 0 0 0 0 1 Negative
AutG4843NOS2rs8068149 1 26088855 G A 0 1 0 0 0 0 1 Positive
AutG1398CRKrs8073032 1 1336407 T C 0 1 0 0 0 0 1 Negative
AutG25979DHRS7Brs8076066 1 26295337 A A 0 1 0 0 0 0 1 Positive
AutGLIS1rs8077351 1 2545473 A A 0 1 0 0 0 0 1 Negative
AutG26022TMEM98rs8082539 1 31299781 G A 0 1 0 0 0 0 1 Positive

Page Counts: 74/584  
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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