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
AutG85358SHANK3 - 22 51153475 G A 0 0 1 0 0 0 1
AutG85358SHANK3 - 22 51159130 AG A 0 0 1 0 0 0 1
AutG85358SHANK3 - 22 51159158 - - 0 0 1 0 0 0 1 Positive
AutG85358SHANK3 - 22 51159534 C T 0 0 1 0 0 0 1
AutG85358SHANK3 - 22 51159850 A G 0 0 1 0 0 0 1 Positive
AutG85358SHANK3 - 22 51159932 T TG 0 0 1 0 0 0 1
AutG85358SHANK3 - 22 51160792 T TG 0 0 1 0 0 0 1
AutG85358SHANK3 - 22 51160792 TGGGGG TGGGGGG 0 0 1 0 0 0 1
AutG85358SHANK3 - 22 51160793 - G 0 0 1 0 0 0 1
AutG27255CNTN6 - 3 1371543 G A 0 0 1 0 0 0 1
AutG152330CNTN4 - 3 2967383 C T 0 0 1 0 0 0 1
AutG3708ITPR1 - 3 4703923 G C 0 0 1 0 0 0 1 Positive
AutG3708ITPR1 - 3 4752093 G A/G 0 0 1 0 0 0 1
AutG100616334MIR4790 - 3 5341811 A C 0 0 1 0 0 0 1
AutG2917GRM7 - 3 7620458 G A 0 0 1 0 0 0 1 Positive
AutG56852RAD18 - 3 8983216 G C 0 0 1 0 0 0 1
AutG9901SRGAP3 - 3 9089078 C T 0 0 1 0 0 0 1 Positive
AutG9901SRGAP3 - 3 9106142 G A 0 0 1 0 0 0 1 Positive
AutG55209SETD5 - 3 9477532 A G 0 0 1 0 0 0 1 Positive
AutG55209SETD5 - 3 9483388 C 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