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
AutG8567MADD - 11 47304002 C T 0 0 1 0 0 0 1 Positive
AutG8567MADD - 11 47296389 G T 0 0 1 0 0 0 1
AutG53ACP2 - 11 47270271 C Y 0 0 1 0 0 0 1
AutG84364ARFGAP2 - 11 47193288 G A 0 0 1 0 0 0 1 Positive
AutG4038LRP4 - 11 46897495 C T 0 0 1 0 0 0 1
AutG9793CKAP5 - 11 46811684 G A 0 0 1 0 0 0 1
AutG51317PHF21A - 11 45971023 CT C 0 0 1 0 0 0 1
AutG9479MAPK8IP1 - 11 45927224 GCAGTTTGTGGAGTA G 0 0 1 0 0 0 1
AutG55343SLC35C1 - 11 45827567 C G 0 0 1 0 0 0 1
AutG2132EXT2 - 11 44219412 C T 0 0 1 0 0 0 1 Positive
AutG57689LRRC4C - 11 42061119 C T 0 0 1 0 0 0 1
AutG119710C11orf74 - 11 38289233 C T 0 0 1 0 0 0 1
AutG6506SLC1A2 - 11 35395749 TGTGACTTGCTGGCTT - 0 0 1 0 0 0 1
AutG25841ABTB2 - 11 34182470 C T 0 0 1 0 0 0 1
AutG4076CAPRIN1 - 11 34107924 - - 0 0 1 0 0 0 1
AutG4076CAPRIN1 - 11 34107923 C T 0 0 1 0 0 0 1
AutG4005LMO2 - 11 33890952 C T 0 0 1 0 0 0 1 Positive
AutG25758C11orf41 - 11 33581339 C T 0 0 1 0 0 0 1
AutG55346TCP11L1 - 11 33106655 C T 0 0 1 0 0 0 1
AutG91614DEPDC7 - 11 33053025 C Y 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