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
AutG26686OR4E2 - 14 22133410 G A 0 0 0 1 0 0 1
AutG9472AKAP6 - 14 33201692 G A 0 0 0 1 0 0 1
AutG253959RALGAPA1 - 14 36207803 G A 0 0 0 1 0 0 1
AutG23116FAM179B - 14 45431638 C G 0 0 0 1 0 0 1
AutG9147NEMF - 14 50307512 C A 0 0 0 1 0 0 1 Positive
AutG10175CNIH1 - 14 54897061 C T 0 0 0 1 0 0 1
AutG11169WDHD1 - 14 55467613 C T 0 0 0 1 0 0 1 Positive
AutG23002DAAM1 - 14 59791152 C T 0 0 0 1 0 0 1
AutG5494PPM1A - 14 60712536 G T 0 0 0 1 0 0 1
AutG2530FUT8 - 14 66096265 C T 0 0 0 1 0 0 1 Positive
AutG8816DCAF5 - 14 69589039 G T 0 0 0 1 0 0 1
AutG6547SLC8A3 - 14 70517735 G A 0 0 0 1 0 0 1
AutG26094DCAF4 - 14 73418524 C T 0 0 0 1 0 0 1
AutG55640FLVCR2 - 14 76045663 C T 0 0 0 1 0 0 1
AutG2103ESRRB - 14 76928944 C T 0 0 0 1 0 0 1 Positive
AutG23357ANGEL1 - 14 77275558 G A 0 0 0 1 0 0 1
AutG283576ZDHHC22 - 14 77600191 C A 0 0 0 1 0 0 1 Positive
AutG53981CPSF2 - 14 92620782 A G 0 0 0 1 0 0 1
AutG79890RIN3 - 14 93081784 G A 0 0 0 1 0 0 1 Positive
AutG5641LGMN - 14 93170685 G A 0 0 0 1 0 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