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
AutG9476NAPSA - 19 50865542 C T 0 0 0 0 1 0 1
AutG50944SHANK1 - 19 51165250 C C/T 0 0 0 0 1 0 1 Positive
AutG50944SHANK1 - 19 51165505 G C/G 0 0 0 0 1 0 1 Positive
AutG50944SHANK1 - 19 51165632 C C/T 0 0 0 0 1 0 1 Positive
AutG50944SHANK1 - 19 51165728 G C/G 0 0 0 0 1 0 1 Positive
AutG50944SHANK1 - 19 51165851 G A/G 0 0 0 0 1 0 1 Positive
AutG50944SHANK1 - 19 51169881 G G/T 0 0 0 0 1 0 1 Positive
AutG50944SHANK1 - 19 51189517 G A/G 0 0 0 0 1 0 1 Positive
AutG50944SHANK1 - 19 51200908 G C/G 0 0 0 0 1 0 1 Positive
AutG50944SHANK1 - 19 51207735 C C/T 0 0 0 0 1 0 1 Positive
AutG3816KLK1 - 19 51326994 T G 0 0 0 0 1 0 1
AutG89858SIGLEC12 - 19 52004878 C T 0 0 0 0 1 0 1
AutG162962ZNF836 - 19 52658231 C T 0 0 0 0 1 0 1
AutG84671ZNF347 - 19 53644208-209 AA - 0 0 0 0 1 0 1
AutG147798TMC4 - 19 54672377 A G 0 0 0 0 1 0 1 Positive
AutG126206NLRP5 - 19 56515319 A C 0 0 0 0 1 0 1
AutG5178PEG3 - 19 57325545 G C 0 0 0 0 1 0 1
AutG390980ZNF805 - 19 57765985 G A 0 0 0 0 1 0 1
AutG57343ZNF304 - 19 57863052 T C 0 0 0 0 1 0 1
AutG7710ZNF154 - 19 58216223 T C 0 0 0 0 1 0 1

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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