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
AutG137902PXDNL - 8 52284560 A T 0 0 0 0 1 0 1
AutG55636CHD7 - 8 61615336 * -T/* 0 0 0 0 1 0 1 Positive
AutG55636CHD7 - 8 61615886 * +A/* 0 0 0 0 1 0 1 Positive
AutG444ASPH - 8 62555483 T C 0 0 0 0 1 0 1
AutG84675TRIM55 - 8 67047224 G A 0 0 0 0 1 0 1
AutG84675TRIM55 - 8 67067937 C T 0 0 0 0 1 0 1
AutG157777C8orf45 - 8 67813550 G - 0 0 0 0 1 0 1
AutG9312KCNB2 - 8 73849256 C T 0 0 0 0 1 0 1
AutG9312KCNB2 - 8 73850175 A G 0 0 0 0 1 0 1
AutG54968TMEM70 - 8 74893414 C T 0 0 0 0 1 0 1 Positive
AutG54968TMEM70 - 8 74893653 G A 0 0 0 0 1 0 1
AutG157285SGK223 - 8 8185746 T C 0 0 0 0 1 0 1
AutG79752ZFAND1 - 8 82641425 A G 0 0 0 0 1 0 1
AutG4325MMP16 - 8 90629428 T C 0 0 0 0 1 0 1
AutG8767RIPK2 - 8 90802429 A G 0 0 0 0 1 0 1 Positive
AutGC8orf87 - 8 94299726 T - 0 0 0 0 1 0 1
AutGC8orf87 - 8 94320252 - G 0 0 0 0 1 0 1
AutG85453TSPYL5 - 8 98289238 T C 0 0 0 0 1 0 1
AutG55353LAPTM4B - 8 98827554 A C 0 0 0 0 1 0 1
AutG203286ANKS6 - 9 101540675 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