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
AutG9868TOMM70A - 3 100084410 A G 0 0 1 0 0 0 1
AutG348801LNP1 - 3 100170600 A T 0 0 1 0 0 0 1
AutG55076TMEM45A - 3 100295832 C T 0 0 1 0 0 0 1
AutG25890ABI3BP - 3 100471643 C T 0 0 1 0 0 0 1 Positive
AutG57337SENP7 - 3 101066863 T C 0 0 1 0 0 0 1
AutG57092PCNP - 3 101316414 C T 0 0 1 0 0 0 1
AutG57092PCNP - 3 101316415 T G 0 0 1 0 0 0 1
AutG64332NFKBIZ - 3 101574022 T G 0 0 1 0 0 0 1
AutG100302640LOC100302640 - 3 106937261 G A 0 0 1 0 0 0 1
AutG961CD47 - 3 107778378 T C 0 0 1 0 0 0 1
AutG401082FLJ25363 - 3 109991039 C G 0 0 1 0 0 0 1
AutG79413ZBED2 - 3 111312622 G R 0 0 1 0 0 0 1
AutG79669C3orf52 - 3 111805385 C G 0 0 1 0 0 0 1
AutG285335SLC9A10 - 3 111873844 C T 0 0 1 0 0 0 1
AutG285335SLC9A10 - 3 111886156 A C 0 0 1 0 0 0 1
AutG91653BOC - 3 112997521 A T 0 0 1 0 0 0 1
AutG152185SPICE1 - 3 113187041 C A 0 0 1 0 0 0 1 Positive
AutG205717KIAA2018 - 3 113376331 G A 0 0 1 0 0 0 1
AutG54762GRAMD1C - 3 113656968 C T 0 0 1 0 0 0 1
AutG79691QTRTD1 - 3 113795683 G A 0 0 1 0 0 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