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
AutG10695CNPY3 - 6 42905450 T A 0 0 1 0 0 0 1
AutG5528PPP2R5D - 6 42975003 G A 0 0 1 0 0 0 1 Positive
AutG5528PPP2R5D - 6 42975179 CT C 0 0 1 0 0 0 1
AutG5528PPP2R5D - 6 42978705 AAGAG AAG 0 0 1 0 0 0 1
AutG5528PPP2R5D - 6 42978887 A G 0 0 1 0 0 0 1
AutG88745RRP36 - 6 43001497 A T 0 0 1 0 0 0 1
AutG9820CUL7 - 6 43011218 G A 0 0 1 0 0 0 1
AutG9820CUL7 - 6 43018958 G A 0 0 1 0 0 0 1
AutG5754PTK7 - 6 43099768 G A 0 0 1 0 0 0 1
AutG5754PTK7 - 6 43106896 - A 0 0 1 0 0 0 1
AutG5754PTK7 - 6 43107166 A C 0 0 1 0 0 0 1
AutG5754PTK7 - 6 43109471 C T 0 0 1 0 0 0 1
AutG23113CUL9 - 6 43191842 G A 0 0 1 0 0 0 1
AutG10864SLC22A7 - 6 43269430 G T 0 0 1 0 0 0 1 Positive
AutG24149ZNF318 - 6 43309923 C A 0 0 1 0 0 0 1 Positive
AutG9533POLR1C - 6 43487568 G A 0 0 1 0 0 0 1 Positive
AutG2030SLC29A1 - 6 44201210 G A 0 0 1 0 0 0 1
AutG347734SLC35B2 - 6 44224229 C G 0 0 1 0 0 0 1
AutG8464SUPT3H - 6 44971489 C G 0 0 1 0 0 0 1
AutG8464SUPT3H - 6 45207626 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