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
AutG10951CBX1 - 17 46180533 A C 0 0 1 0 0 0 1
AutG3217HOXB7 - 17 46685259 C A 0 0 1 0 0 0 1 Positive
AutG1748DLX4 - 17 48050479 G C 0 0 1 0 0 0 1
AutG3675ITGA3 - 17 48145447 C T 0 0 1 0 0 0 1
AutG84687PPP1R9B - 17 48213378 C T 0 0 1 0 0 0 1
AutG6442SGCA - 17 48247675 C T 0 0 1 0 0 0 1
AutG80221ACSF2 - 17 48539642 C T 0 0 1 0 0 0 1
AutG91369ANKRD40 - 17 48776796 A G 0 0 1 0 0 0 1
AutG124857WFIKKN2 - 17 48917850 C T 0 0 1 0 0 0 1 Positive
AutG9043SPAG9 - 17 49072429 GATCTA G 0 0 1 0 0 0 1
AutG56934CA10 - 17 49713356 G A 0 0 1 0 0 0 1
AutG56934CA10 - 17 50235121 A G 0 0 1 0 0 0 1 Positive
AutG100506650LOC100506650 - 17 51724647 C G 0 0 1 0 0 0 1
AutG10040TOM1L1 - 17 52978235 TG T 0 0 1 0 0 0 1
AutG23531MMD - 17 53742908 A T 0 0 1 0 0 0 1
AutG58488PCTP - 17 53848508 T C 0 0 1 0 0 0 1 Positive
AutG9241NOG - 17 54671662 C T 0 0 1 0 0 0 1
AutG376412RNF126P1 - 17 55157062 G A 0 0 1 0 0 0 1
AutG8165AKAP1 - 17 55183771 G A 0 0 1 0 0 0 1
AutG8165AKAP1 - 17 55189193 G A 0 0 1 0 0 0 1 Positive

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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