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
AutG126969SLC44A3 - 1 95356667 C T 0 0 0 1 0 0 1
AutG1301COL11A1 - 1 103352554 C A 0 0 0 1 0 0 1 Positive
AutG1301COL11A1 - 1 103380293 C T 0 0 0 1 0 0 1
AutG55599RNPC3 - 1 104093562 G T 0 0 0 1 0 0 1
AutG284611FAM102B - 1 109177766 A G 0 0 0 1 0 0 1
AutG1952CELSR2 - 1 109801415 G A 0 0 0 1 0 0 1
AutG2946GSTM2 - 1 110210239 G A 0 0 0 1 0 0 1
AutG79574EPS8L3 - 1 110294811 C T 0 0 0 1 0 0 1
AutG8458TTF2 - 1 117619442 C T 0 0 0 1 0 0 1
AutG128077LIX1L - 1 145498680 C T 0 0 0 1 0 0 1
AutG9557CHD1L - 1 146728216 C T 0 0 0 1 0 0 1
AutG388697HRNR - 1 152188201 C A 0 0 0 1 0 0 1
AutG388697HRNR - 1 152188429 A G 0 0 0 1 0 0 1
AutG388697HRNR - 1 152188491 C T 0 0 0 1 0 0 1
AutG2312FLG - 1 152281464 A G 0 0 0 1 0 0 1
AutG55249YY1AP1 - 1 155630566 G C 0 0 0 1 0 0 1 Positive
AutG54856GON4L - 1 155735530 A C 0 0 0 1 0 0 1
AutG6746SSR2 - 1 155981618 G A 0 0 0 1 0 0 1
AutG4209MEF2D - 1 156452416 C T 0 0 0 1 0 0 1 Positive
AutG164118TTC24 - 1 156553164 T G 0 0 0 1 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