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
AutG57578UNC79 - 14 94129046 C T 0 0 0 1 0 0 1
AutG123096SLC25A29 - 14 100758871 C T 0 0 0 1 0 0 1 Positive
AutG79446WDR25 - 14 100996272 C T 0 0 0 1 0 0 1
AutG8788DLK1 - 14 101200880 C T 0 0 0 1 0 0 1 Positive
AutG1778DYNC1H1 - 14 102446851 C T 0 0 0 1 0 0 1 Positive
AutG1778DYNC1H1 - 14 102510723 A T 0 0 0 1 0 0 1
AutG9578CDC42BPB - 14 103405969 T C 0 0 0 1 0 0 1 Positive
AutG113146AHNAK2 - 14 105413494 G A 0 0 0 1 0 0 1
AutG113146AHNAK2 - 14 105413930 C T 0 0 0 1 0 0 1
AutG113146AHNAK2 - 14 105416714 C T 0 0 0 1 0 0 1
AutG23241PACS2 - 14 105846133 C T 0 0 0 1 0 0 1
AutG8755ADAM6 - 14 106539261 G A 0 0 0 1 0 0 1
AutG28468IGHV1-18 - 14 106641673 G A 0 0 0 1 0 0 1
AutG57194ATP10A - 15 25958938 C T 0 0 0 1 0 0 1 Positive
AutG70ACTC1 - 15 35084465 G A 0 0 0 1 0 0 1 Positive
AutG145942TMCO5A - 15 38233837 C T 0 0 0 1 0 0 1
AutG56924PAK6 - 15 40568217 C T 0 0 0 1 0 0 1
AutG5330PLCB2 - 15 40590077 C T 0 0 0 1 0 0 1
AutG23005MAPKBP1 - 15 42116026 G T 0 0 0 1 0 0 1
AutG25963TMEM87A - 15 42528588 G A 0 0 0 1 0 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