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
AutG2832NPBWR2 - 20 62737215 G A 0 0 1 0 0 0 1 Positive
AutG7179TPTE - 21 10908913 T A 0 0 1 0 0 0 1
AutG7179TPTE - 21 10910400 CTA C 0 0 1 0 0 0 1
AutG149992ANKRD30BP2 - 21 14606656 T C 0 0 1 0 0 0 1
AutG6782HSPA13 - 21 15753820 G A 0 0 1 0 0 0 1
AutG64092SAMSN1 - 21 15893541 C T 0 0 1 0 0 0 1 Positive
AutG8204NRIP1 - 21 16338241 T A 0 0 1 0 0 0 1 Positive
AutG5651TMPRSS15 - 21 19642312 C T 0 0 1 0 0 0 1
AutG351APP - 21 27457755 A T 0 0 1 0 0 0 1
AutGLINC00314 - 21 29871210 C T 0 0 1 0 0 0 1
AutG26046LTN1 - 21 30318550 C M 0 0 1 0 0 0 1
AutG2897GRIK1 - 21 30949318 G A 0 0 1 0 0 0 1
AutG2897GRIK1 - 21 30959815 A G 0 0 1 0 0 0 1 Positive
AutG2897GRIK1 - 21 30961290 G T 0 0 1 0 0 0 1
AutG2897GRIK1 - 21 31325472 G A 0 0 1 0 0 0 1
AutG9073CLDN8 - 21 31641231 G A 0 0 1 0 0 0 1
AutG100131902KRTAP25-1 - 21 31661638 ACC A 0 0 1 0 0 0 1
AutG100422891MIR4327 - 21 31762747 G A 0 0 1 0 0 0 1
AutG284827KRTAP13-4 - 21 31802727 C T 0 0 1 0 0 0 1 Positive
AutG7074TIAM1 - 21 32869814 G A 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