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
AutG57680CHD8 - 14 21859175 A AT 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21859175 * +T/* 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21854022 GGGT G 0 0 1 0 0 0 1
AutG57680CHD8 - 14 21854022 * -GGT/* 0 0 1 0 0 0 1
AutG11198SUPT16H - 14 21828671 C T 0 0 1 0 0 0 1 Positive
AutG29986SLC39A2 - 14 21469087 C A 0 0 1 0 0 0 1
AutG10876EDDM3A - 14 21218841 C T 0 0 1 0 0 0 1
AutG328APEX1 - 14 20925282 C G 0 0 1 0 0 0 1
AutG113622ADPRHL1 - 13 114107662 T C 0 0 1 0 0 0 1
AutG3916LAMP1 - 13 113965016 T C 0 0 1 0 0 0 1
AutG2155F7 - 13 113773238 G A 0 0 1 0 0 0 1
AutG23250ATP11A - 13 113530101 A G 0 0 1 0 0 0 1
AutG8874ARHGEF7 - 13 111927885 T C 0 0 1 0 0 0 1 Positive
AutG55739CARKD - 13 111290774 C Y 0 0 1 0 0 0 1
AutG728215FAM155A - 13 108303699 C T 0 0 1 0 0 0 1
AutG55082ARGLU1 - 13 107731349 C G 0 0 1 0 0 0 1
AutG6555SLC10A2 - 13 103698629 ACAGT A 0 0 1 0 0 0 1
AutG79070KDELC1 - 13 103443708 T C 0 0 1 0 0 0 1
AutG7174TPP2 - 13 103288643 G T 0 0 1 0 0 0 1 Positive
AutG259232NALCN - 13 101944423 A G 0 0 1 0 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