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
AutG4204MECP2 - X 153296153 - - 0 0 0 0 1 0 1
AutG4204MECP2 - X 153296153 G A/G 0 0 0 0 1 0 1 Positive
AutG4204MECP2 - X 153296671 G A/G 0 0 0 0 1 0 1 Positive
AutG4204MECP2 - X 153296696 C C/T 0 0 0 0 1 0 1 Positive
AutG4204MECP2 - X 153296711 - - 0 0 0 0 1 0 1 Positive
AutG2316FLNA - X 153593613 C T 0 0 0 0 1 0 1 Positive
AutG2316FLNA - X 153594754 C T 0 0 0 0 1 0 1 Positive
AutG55558PLXNA3 - X 153694155 A T 0 0 0 0 1 0 1 Positive
- X 153698849 C T 0 0 0 0 1 0 1 Positive
AutG55558PLXNA3 - X 153701511 G A 0 0 0 0 1 0 1 Negative
AutG60343FAM3A - X 153734897 A G 0 0 0 0 1 0 1 Negative
AutG65991FUNDC2 - X 154284285 C G 0 0 0 0 1 0 1 Negative
AutG116442RAB39B - X 154493543 G A 0 0 0 0 1 0 1 Positive
AutG8544PIR - X 15474053 - - 0 0 0 0 1 0 1 Positive
AutG55217TMLHE - X 154754246 C T 0 0 0 0 1 0 1 Positive
AutG55787TXLNG - X 16860727 A G 0 0 0 0 1 0 1 Negative
AutG4810NHS - X 17744090 - - 0 0 0 0 1 0 1 Positive
AutG4810NHS - X 17750042 G C 0 0 0 0 1 0 1 Positive
AutG139105BEND2 - X 18192321 A G 0 0 0 0 1 0 1
AutG6792CDKL5 - X 18445494 - AGCTGTAG 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