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
AutG1114CHGB - 20 5903482 G A 0 0 0 1 0 0 1 Positive
AutG27131SNX5 - 20 17928186 G A 0 0 0 1 0 0 1
AutG58495OVOL2 - 20 18005484 C A 0 0 0 1 0 0 1
AutG22803XRN2 - 20 21319718 A G 0 0 0 1 0 0 1
AutG4821NKX2-2 - 20 21494134 G A 0 0 0 1 0 0 1
AutG2036EPB41L1 - 20 34773214 C T 0 0 0 1 0 0 1 Positive
AutG57468SLC12A5 - 20 44681697 G A 0 0 0 1 0 0 1 Positive
AutG81030ZBP1 - 20 56188179 C A 0 0 0 1 0 0 1
AutG2778GNAS - 20 57480424 G A 0 0 0 1 0 0 1
AutG6874TAF4 - 20 60589640 G C 0 0 0 1 0 0 1 Positive
AutG26164MTG2 - 20 60772988 T A 0 0 0 1 0 0 1
AutG7179TPTE - 21 10914419 G A 0 0 0 1 0 0 1
AutG101927973LOC101927973 - 21 29615646 G A 0 0 0 1 0 0 1
AutG2897GRIK1 - 21 30959815 A G 0 0 0 1 0 0 1 Positive
AutG30811HUNK - 21 33346895 G A 0 0 0 1 0 0 1
AutG1826DSCAM - 21 41550838 G A 0 0 0 1 0 0 1
AutG1826DSCAM - 21 41684236 G A 0 0 0 1 0 0 1 Positive
AutG49854ZBTB21 - 21 43412590 C T 0 0 0 1 0 0 1
AutG7109TRAPPC10 - 21 45502691 G A 0 0 0 1 0 0 1
AutG326AIRE - 21 45711076 G A 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