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
AutG9447AIM2rs855867 - - - - 1 0 0 0 0 0 1 Positive
AutG1917EEF1A2rs880446 - - - - 1 0 0 0 0 0 1 Positive
rs922551 5 25867540 A A 1 0 0 0 0 0 1 Positive
rs9293194 5 25911136 C A 1 0 0 0 0 0 1 Positive
AutG55227LRRC1rs9349688 6 53762092 A A 1 0 0 0 0 0 1 Positive
AutG222537HS3ST5rs9384952 6 115960064 T C 1 0 0 0 0 0 1 Positive
AutG55227LRRC1rs9395885 6 53745477 C C 1 0 0 0 0 0 1 Positive
AutG23026MYO16rs9521337 1 110025636 T G 1 0 0 0 0 0 1 Positive
AutG23026MYO16rs9521354 1 110067124 C A 1 0 0 0 0 0 1 Positive
AutG23026MYO16rs9521355 1 110067182 T C 1 0 0 0 0 0 1 Positive
AutG29119CTNNA3rs9651325 1 68979853 G A 1 0 0 0 0 0 1 Positive
AutG491ATP2B2rs9879311 - - - - 1 0 0 0 0 0 1 Positive
AutG51760SYT17rs9932538 1 19208569 A A 1 0 0 0 0 0 1 Positive
AutG161253REM2 - 14 23355292 C T 0 0 1 0 0 0 1
AutG26020LRP10 - 14 23346233 C T 0 0 1 0 0 0 1 Positive
AutG9056SLC7A7 - 14 23243580 G R 0 0 1 0 0 0 1
AutG5018OXA1L - 14 23240676 T C 0 0 1 0 0 0 1 Positive
AutG57680CHD8 - 14 22829778 G - 0 0 1 0 0 0 1
AutG57680CHD8 - 14 22808293 - - 0 0 1 0 0 0 1
AutG57680CHD8 - 14 22801533 T - 0 0 1 0 0 0 1

Page Counts: 134/584  
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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