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
AutG55521TRIM36 - 5 114473324 A C 0 0 1 0 0 0 1
AutG100302736TMED7-TICAM2 - 5 114916409 C T 0 0 1 0 0 0 1
AutG353376TICAM2 - 5 114952066 T A 0 0 1 0 0 0 1
AutG206338AQPEP - 5 115323514 G C 0 0 1 0 0 0 1 Positive
AutG728342LOC728342 - 5 118007172 T C 0 0 1 0 0 0 1
AutG1657DMXL1 - 5 118485784 C T 0 0 1 0 0 0 1
AutG51334PRR16 - 5 120959739 G C 0 0 1 0 0 0 1
AutG9627SNCAIP - 5 121787121 C T 0 0 1 0 0 0 1
AutG9627SNCAIP - 5 121913650 T A 0 0 1 0 0 0 1
AutG153241CEP120 - 5 122718490 G T 0 0 1 0 0 0 1
AutG65983GRAMD3 - 5 125820090 G C 0 0 1 0 0 0 1
AutG2201FBN2 - 5 127702120 T G 0 0 1 0 0 0 1 Positive
AutG8974P4HA2 - 5 131534615 T C 0 0 1 0 0 0 1 Positive
AutG8974P4HA2 - 5 131543433 T A 0 0 1 0 0 0 1 Positive
AutG27125AFF4 - 5 132223552 - - 0 0 1 0 0 0 1
AutG27125AFF4 - 5 132223552 C T 0 0 1 0 0 0 1
AutG23338PHF15 - 5 133871563 C T 0 0 1 0 0 0 1
AutG10802SEC24A - 5 134050741 C G 0 0 1 0 0 0 1 Positive
AutG10802SEC24A - 5 134059281 C A 0 0 1 0 0 0 1
AutG10802SEC24A - 5 134059281 CC AG 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