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
AutG4292MLH1 - 3 37081770 A C 0 0 1 0 0 0 1 Positive
AutG5333PLCD1 - 3 38058203 - - 0 0 1 0 0 0 1
AutG9940DLEC1 - 3 38101247 A G 0 0 1 0 0 0 1
AutG30ACAA1 - 3 38178135 C A 0 0 1 0 0 0 1
AutG165904XIRP1 - 3 39226658 T TG 0 0 1 0 0 0 1
AutG165904XIRP1 - 3 39229490 - - 0 0 1 0 0 0 1
AutG165904XIRP1 - 3 39230145 G A 0 0 1 0 0 0 1
AutG165904XIRP1 - 3 39230164 C T 0 0 1 0 0 0 1 Positive
AutG1524CX3CR1 - 3 39307946 C G 0 0 1 0 0 0 1
AutG9045RPL14 - 3 40500225 C A 0 0 1 0 0 0 1
AutG1499CTB1 - 3 41275346 G A 0 0 1 0 0 0 1
AutG1499CTNNB1 - 3 41275346 G R 0 0 1 0 0 0 1
AutG1499CTB1 - 3 41300342 G - 0 0 1 0 0 0 1
AutG1499CTB1 - 3 41300753 C - 0 0 1 0 0 0 1
AutG54986ULK4 - 3 41977284 A T 0 0 1 0 0 0 1
AutG22906TRAK1 - 3 42242295 G A 0 0 1 0 0 0 1
AutG9117SEC22C - 3 42610365 A G 0 0 1 0 0 0 1
AutG152206CCDC13 - 3 42781953 T C 0 0 1 0 0 0 1
AutG54861SNRK - 3 43389739 A G 0 0 1 0 0 0 1
AutG353274ZNF445 - 3 44488106 C G 0 0 1 0 0 0 1

Page Counts: 312/584  
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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