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
AutG1016CDH18 - 5 21337172 G T 0 0 0 0 1 0 1
AutG6389SDHA - 5 236714 GG - 0 0 0 0 1 0 1
AutG1007CDH9 - 5 26885797 T C 0 0 0 0 1 0 1
AutG1004CDH6 - 5 31323179 - - 0 0 0 0 1 0 1 Positive
AutG133584EGFLAM - 5 38412639-642 AAGT - 0 0 0 0 1 0 1
AutG133584EGFLAM - 5 38418311 C A 0 0 0 0 1 0 1
AutG735C9 - 5 39289043 A G 0 0 0 0 1 0 1
AutG54622ARL15 - 5 53290234 A G 0 0 0 0 1 0 1
AutG4214MAP3K1 - 5 56155672 A G 0 0 0 0 1 0 1
AutG64283RGNEF - 5 73153552 G A 0 0 0 0 1 0 1
AutG26049FAM169A - 5 74101028 C T 0 0 0 0 1 0 1
AutG51426POLK - 5 74882867 A - 0 0 0 0 1 0 1
AutG10788IQGAP2 - 5 75960968 G C 0 0 0 0 1 0 1
AutG108ADCY2 - 5 7707862 G A 0 0 0 0 1 0 1 Positive
AutG133746JMY - 5 78595988 C T 0 0 0 0 1 0 1
AutG134526ACOT12 - 5 80641789 C T 0 0 0 0 1 0 1
AutG92270ATP6AP1L - 5 81608563 T C 0 0 0 0 1 0 1
AutG116068LYSMD3 - 5 89815108 G T 0 0 0 0 1 0 1
AutG9037SEMA5A - 5 9318508 C A 0 0 0 0 1 0 1 Positive
AutGKIAA0825 - 5 93930510 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