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
AutG64518TEKT3 - 17 15207450 C G 0 0 1 0 0 0 1 Positive
AutG64518TEKT3 - 17 15212030 G A 0 0 1 0 0 0 1 Positive
AutG9611NCOR1 - 17 15983379 C C/G 0 0 1 0 0 0 1
AutG10743RAI1 - 17 17697926 C T 0 0 1 0 0 0 1 Positive
AutG10743RAI1 - 17 17698609 G A 0 0 1 0 0 0 1 Positive
AutG10743RAI1 - 17 17699836 AG A 0 0 1 0 0 0 1
AutG83450LRRC48 - 17 17880957 T C 0 0 1 0 0 0 1
AutG3996LLGL1 - 17 18137939 G A 0 0 1 0 0 0 1
AutG3996LLGL1 - 17 18140835 C T 0 0 1 0 0 0 1
AutG2314FLII - 17 18151881 G C 0 0 1 0 0 0 1
AutG2314FLII - 17 18157933 G A 0 0 1 0 0 0 1
AutG140775SMCR8 - 17 18221161 GACA GACACA 0 0 1 0 0 0 1
AutG654346LGALS9C - 17 18380144 T C 0 0 1 0 0 0 1
AutG147166TRIM16L - 17 18638245 G A 0 0 1 0 0 0 1
AutG644815FAM83G - 17 18874685 C CGGT 0 0 1 0 0 0 1
AutG22905EPN2 - 17 19213285 C A 0 0 1 0 0 0 1 Positive
AutG146802SLC47A2 - 17 19583282 T A 0 0 1 0 0 0 1
AutG339184CCDC144NL - 17 20799169 C T 0 0 1 0 0 0 1
AutG284123FAM27L - 17 21825494 G A 0 0 1 0 0 0 1
AutG4843NOS2 - 17 26096003 CT C 0 0 1 0 0 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