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
AutG1106CHD2 - 15 93528788 G C/G 0 0 0 0 1 0 1 Positive
AutG1106CHD2 - 15 93540325 A - 0 0 0 0 1 0 1
AutG1106CHD2 - 15 93540500 G A/G 0 0 0 0 1 0 1 Positive
AutG1106CHD2 - 15 93543766 C C/T 0 0 0 0 1 0 1 Positive
AutG1106CHD2 - 15 93567680 G A/G 0 0 0 0 1 0 1 Positive
AutG1106CHD2 - 15 93567783 C C/G 0 0 0 0 1 0 1 Positive
AutGLOC101927310 - 15 98255946 A T 0 0 0 0 1 0 1
AutG91947ARRDC4 - 15 98509167 G C 0 0 0 0 1 0 1
AutG26156RSL1D1 - 16 11933743 C A 0 0 0 0 1 0 1
AutG57496MKL2 - 16 14340403 - - 0 0 0 0 1 0 1 Positive
AutG4363ABCC1 - 16 16142079 G T 0 0 0 0 1 0 1
AutG64131XYLT1 - 16 18361364 T C 0 0 0 0 1 0 1
AutG64131XYLT1 - 16 18361586 - A 0 0 0 0 1 0 1
AutG79905TMC7 - 16 19020725 A C 0 0 0 0 1 0 1
AutG79905TMC7 - 16 19033065 C T 0 0 0 0 1 0 1
AutG79838TMC5 - 16 19475099 C A 0 0 0 0 1 0 1
AutG54988ACSM5 - 16 20442594 C T 0 0 0 0 1 0 1
AutG112479ERI2 - 16 20796338 G A 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2098606 C C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2100429 A A/G 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