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
AutG727C5 - 9 123734289 A G 0 0 1 0 0 0 1
AutG727C5 - 9 123753483 TCC TC 0 0 1 0 0 0 1
AutG2040STOM - 9 124169495 A G 0 0 1 0 0 0 1
AutG153090DAB2IP - 9 124530734 T C 0 0 1 0 0 0 1 Positive
AutG5742PTGS1 - 9 125154742 C A 0 0 1 0 0 0 1
AutG26740OR1J2 - 9 125273716 G A 0 0 1 0 0 0 1
AutG5082PDCL - 9 125582651 C T 0 0 1 0 0 0 1
AutG55342STRBP - 9 125909143 T C 0 0 1 0 0 0 1
AutG286204CRB2 - 9 126133005 C T 0 0 1 0 0 0 1
AutG10783NEK6 - 9 127034503 C A 0 0 1 0 0 0 1
AutG347088GPR144 - 9 127237709 C T 0 0 1 0 0 0 1
AutG2516NR5A1 - 9 127262722 C T 0 0 1 0 0 0 1 Positive
AutG2649NR6A1 - 9 127402131 G A 0 0 1 0 0 0 1
AutG26130GAPVD1 - 9 128092441 C G 0 0 1 0 0 0 1
AutG26130GAPVD1 - 9 128118025 C A 0 0 1 0 0 0 1 Positive
AutG5090PBX3 - 9 128509871 G A 0 0 1 0 0 0 1
AutG5090PBX3 - 9 128678099 G C 0 0 1 0 0 0 1 Positive
AutGMVB12B - 9 129184210 A T 0 0 1 0 0 0 1 Positive
AutG4010LMX1B - 9 129458577 C T 0 0 1 0 0 0 1
AutG6136RPL12 - 9 130210655 G A 0 0 1 0 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