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
AutGNONE - 18 99312 G A 0 0 1 0 0 0 1
AutG81035COLEC12 - 18 321720 C A 0 0 1 0 0 0 1 Positive
AutGLINC00470 - 18 1794249 T G 0 0 1 0 0 0 1
AutG23347SMCHD1 - 18 2666192 A G 0 0 1 0 0 0 1
AutG23347SMCHD1 - 18 2667020 A G 0 0 1 0 0 0 1
AutG8736MYOM1 - 18 3067506 C T 0 0 1 0 0 0 1
AutG9229DLGAP1 - 18 3879854 C T 0 0 1 0 0 0 1 Positive
AutG23136EPB41L3 - 18 5398114 A G 0 0 1 0 0 0 1
AutG284217LAMA1 - 18 7032103 C T 0 0 1 0 0 0 1
AutG284217LAMA1 - 18 7050797 G A 0 0 1 0 0 0 1
AutG339291LRRC30 - 18 7231443 G T 0 0 1 0 0 0 1 Positive
AutG5797PTPRM - 18 8244097 G A 0 0 1 0 0 0 1 Positive
AutG5797PTPRM - 18 8376088 T C 0 0 1 0 0 0 1
AutGCCDC165 - 18 8784008 C T 0 0 1 0 0 0 1
AutG23253ANKRD12 - 18 9221974 CTGA C 0 0 1 0 0 0 1
AutG57045TWSG1 - 18 9340985 G A 0 0 1 0 0 0 1
AutG10928RALBP1 - 18 9533755 C T 0 0 1 0 0 0 1
AutG11031RAB31 - 18 9795026 G A 0 0 1 0 0 0 1
AutG11031RAB31 - 18 9815108 T C 0 0 1 0 0 0 1
AutG11031RAB31 - 18 9822605 C T 0 0 1 0 0 0 1

Page Counts: 249/584  
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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