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
AutG10260DENND4A - 15 66048521 A G 0 0 1 0 0 0 1 Positive
AutG84465MEGF11 - 15 66198459 G A 0 0 1 0 0 0 1
AutG84465MEGF11 - 15 66208524 G R 0 0 1 0 0 0 1
AutG84465MEGF11 - 15 66210324 A G 0 0 1 0 0 0 1
AutG54962TIPIN - 15 66629505 T Y 0 0 1 0 0 0 1
AutG10302SNAPC5 - 15 66786860 T Y 0 0 1 0 0 0 1
AutG64799IQCH - 15 67665783 T C 0 0 1 0 0 0 1
AutG5607MAP2K5 - 15 67985878 C T 0 0 1 0 0 0 1
AutG22801ITGA11 - 15 68599749 G A 0 0 1 0 0 0 1
AutG8125ANP32A - 15 69080207 CTTCGAGTTTGCCTTCA C 0 0 1 0 0 0 1
AutG6176RPLP1 - 15 69815592 C T 0 0 1 0 0 0 1
AutG55075UACA - 15 70957107 T C 0 0 1 0 0 0 1
AutG56965PARP6 - 15 72535063 CTTCAT C 0 0 1 0 0 0 1
AutG10021HCN4 - 15 73614963 G C 0 0 1 0 0 0 1
AutG27020NPTN - 15 73862669 G A 0 0 1 0 0 0 1
AutG388135C15orf59 - 15 74156205 G C 0 0 1 0 0 0 1
AutG57611ISLR2 - 15 74425536 C Y 0 0 1 0 0 0 1
AutG80153EDC3 - 15 74948257 A G 0 0 1 0 0 0 1 Positive
AutG1544CYP1A2 - 15 75044182 C A 0 0 1 0 0 0 1
AutG1544CYP1A2 - 15 75047147 C T 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