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
AutG23644EDC4 - 16 67913976 G A 0 0 0 0 1 0 1
AutG55512SMPD3 - 16 68541904 T C 0 0 0 0 1 0 1
AutG999CDH1 - 16 68855966 G A 0 0 0 0 1 0 1
AutG79613TMCO7 - 16 68936305 G T 0 0 0 0 1 0 1
AutG10725NFAT5 - 16 69727389 C T 0 0 0 0 1 0 1
AutG10164CHST4 - 16 71571290 A C 0 0 0 0 1 0 1
AutG463ZFHX3 - 16 72821344 C T 0 0 0 0 1 0 1
AutGLINC01568 - 16 73865143 C T 0 0 0 0 1 0 1
AutG100616172MIR4719 - 16 77019173 T C 0 0 0 0 1 0 1
AutG51741WWOX - 16 78359388 T C 0 0 0 0 1 0 1
AutG51741WWOX - 16 78992382 T C 0 0 0 0 1 0 1
AutG101928248LINC01229 - 16 79934350 T C 0 0 0 0 1 0 1
AutG54715RBFOX1 - 16 8030152 - T 0 0 0 0 1 0 1
AutG29948OSGIN1 - 16 83999440 G T 0 0 0 0 1 0 1 Positive
AutGDNAAF1 - 16 84211403 C G 0 0 0 0 1 0 1
AutG63922CHTF18 - 16 845754 C T 0 0 0 0 1 0 1
AutG348180CTU2 - 16 88780568 C T 0 0 0 0 1 0 1
AutG29123ANKRD11 - 16 89346082 C T 0 0 0 0 1 0 1 Positive
AutG29123ANKRD11 - 16 89351565 - - 0 0 0 0 1 0 1 Positive
AutG29123ANKRD11 - 16 89459723 T - 0 0 0 0 1 0 1

Page Counts: 471/584  
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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