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
AutG7249TSC2 - 16 2131656 A A/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2134269 C C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2134428 G C/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2134508 G T 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2134692 A A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2134981 CCTT C 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2135023 A A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2137939 A G 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2138123 A A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2138133 A A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2138229 T C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2138320 C CCAGCGGGTAGGGAATATGGGGCTCCCT 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2138324 C C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2138544 C C/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2138546 G A 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2138574 T C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2138600 G A 0 0 0 0 1 0 1
AutG55718POLR3E - 16 22339847 C T 0 0 0 0 1 0 1
AutG27327TNRC6A - 16 24815534 A G 0 0 0 0 1 0 1
AutG342357ZKSCAN2 - 16 25266562 A G 0 0 0 0 1 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