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
AutGASIC2 - 17 32292577 A G 0 0 1 0 0 0 1
AutG10693CCT6B - 17 33269892 G A 0 0 1 0 0 0 1
AutG3980LIG3 - 17 33313013 CT C 0 0 1 0 0 0 1
AutGRAD51D - 17 33446571 C G 0 0 1 0 0 0 1 Positive
AutG146862UNC45B - 17 33481726 C T 0 0 1 0 0 0 1 Positive
AutG146862UNC45B - 17 33495251 C T 0 0 1 0 0 0 1
AutG162394SLFN5 - 17 33586581 G T 0 0 1 0 0 0 1 Positive
AutG146857SLFN13 - 17 33768288 G A 0 0 1 0 0 0 1
AutG342615SLFN12L - 17 33806410 A G 0 0 1 0 0 0 1
AutG8148TAF15 - 17 34171638 CTATGGTGGAGACAGAAGTGGGGGT C 0 0 1 0 0 0 1
AutG6352CCL5 - 17 34205584 G C 0 0 1 0 0 0 1 Positive
AutG654341TBC1D3G - 17 34797651 A AG 0 0 1 0 0 0 1
AutG80179MYO19 - 17 34862997 G T 0 0 1 0 0 0 1
AutG79893GGNBP2 - 17 34934444 C T 0 0 1 0 0 0 1
AutG79893GGNBP2 - 17 34943466 C T 0 0 1 0 0 0 1
AutG31ACACA - 17 35457118 C T 0 0 1 0 0 0 1
AutG31ACACA - 17 35487135 G A 0 0 1 0 0 0 1 Positive
AutG11276SYNRG - 17 35946557 T K 0 0 1 0 0 0 1
AutG440435GPR179 - 17 36486981 G A 0 0 1 0 0 0 1
AutG8396PIP4K2B - 17 36927265 CTTTCATGGCTTTTCATGGC CTTTCATGGC 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