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
AutG54716SLC6A20 - 3 45801393 T C 0 0 0 0 1 0 1
AutG79443FYCO1 - 3 46003735 C T 0 0 0 0 1 0 1
AutG79443FYCO1 - 3 46008983 G A 0 0 0 0 1 0 1
AutG1234CCR5 - 3 46414557 T A 0 0 0 0 1 0 1
AutG9034CCRL2 - 3 46449863 G A 0 0 0 0 1 0 1
AutG259173ALS2CL - 3 46712490 G A 0 0 0 0 1 0 1
AutG259173ALS2CL - 3 46719860 T C 0 0 0 0 1 0 1
AutG3708ITPR1 - 3 4693880 C C/T 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4712442 G G/T 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4714966 G A/G 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4716870 C C/G 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4718405 G A/G 0 0 0 0 1 0 1 Positive
AutG29072SETD2 - 3 47189940 A W 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4722295 G A/G 0 0 0 0 1 0 1 Positive
AutG29072SETD2 - 3 47230392 G R 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4741615 C C/T 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4747976 C C/T 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4767233 C A/C 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4768829 C C/T 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4776935 A A/T 0 0 0 0 1 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