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
AutG23671TMEFF2 - 2 192742700 C T 0 0 0 0 1 0 1
AutG64002PCGEM1 - 2 193321565 A G 0 0 0 0 1 0 1
AutG23040MYT1L - 2 1983308 A A/G 0 0 0 0 1 0 1 Positive
AutG23040MYT1L - 2 1983321 C C/T 0 0 0 0 1 0 1 Positive
AutG23040MYT1L - 2 1983537 T C/T 0 0 0 0 1 0 1 Positive
AutGLOC101927619 - 2 199183374 A C 0 0 0 0 1 0 1
AutG8828NRP2 - 2 206537020 G T 0 0 0 0 1 0 1
AutG22868FASTKD2 - 2 207631493 T C 0 0 0 0 1 0 1
AutG389072PLEKHM3 - 2 208842276 C G 0 0 0 0 1 0 1
AutG2066ERBB4 - 2 212773273 A G 0 0 0 0 1 0 1
AutG6556SLC11A1 - 2 219249897 G A 0 0 0 0 1 0 1
AutG7429VIL1 - 2 219299328 A C 0 0 0 0 1 0 1
AutG7701ZNF142 - 2 219521110 C T 0 0 0 0 1 0 1
AutG130612TMEM198 - 2 220414569 G A 0 0 0 0 1 0 1
AutG5077PAX3 - 2 223096868 A T 0 0 0 0 1 0 1
AutGLOC102723362 - 2 22552562 T C 0 0 0 0 1 0 1
AutGLOC102723362 - 2 22552692 T C 0 0 0 0 1 0 1
AutGLOC102723362 - 2 22552698 A - 0 0 0 0 1 0 1
AutG1286COL4A4 - 2 227915847 C T 0 0 0 0 1 0 1
AutG9320TRIP12 - 2 230632309 Y C/T 0 0 0 0 1 0 1 Positive

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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