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
AutG6329SCN4A - 17 62029050 C T 0 0 1 0 0 0 1
AutG6329SCN4A - 17 62049125 G A 0 0 1 0 0 0 1 Positive
AutG55852TEX2 - 17 62272355 G C 0 0 1 0 0 0 1
AutG55852TEX2 - 17 62290197 C T 0 0 1 0 0 0 1
AutG1655DDX5 - 17 62499353 C G 0 0 1 0 0 0 1 Positive
AutG5578PRKCA - 17 64410805 C T 0 0 1 0 0 0 1
AutG5578PRKCA - 17 64683232 G A 0 0 1 0 0 0 1
AutG5578PRKCA - 17 64684446 G R 0 0 1 0 0 0 1
AutG5578PRKCA - 17 64685129 C T 0 0 1 0 0 0 1
AutG22901ARSG - 17 66303921 C T 0 0 1 0 0 0 1
AutG23460ABCA6 - 17 67136812 T G 0 0 1 0 0 0 1 Positive
AutG5608MAP2K6 - 17 67513027 A T 0 0 1 0 0 0 1 Positive
AutG5608MAP2K6 - 17 67513031 C T 0 0 1 0 0 0 1 Positive
AutG9382COG1 - 17 71192877 G C 0 0 1 0 0 0 1
AutG23580CDC42EP4 - 17 71281677 G A 0 0 1 0 0 0 1
AutG124602KIF19 - 17 72346879 A G 0 0 1 0 0 0 1
AutG9368SLC9A3R1 - 17 72759634 G C 0 0 1 0 0 0 1
AutG2905GRIN2C - 17 72840498 C T 0 0 1 0 0 0 1
AutG347741OTOP3 - 17 72943142 G A 0 0 1 0 0 0 1
AutGHID1 - 17 72954572 A T 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