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
AutG5297PI4KA - 22 21167781 G A 0 0 1 0 0 0 1
AutG9342SNAP29 - 22 21224680 T C 0 0 1 0 0 0 1 Positive
AutG8216LZTR1 - 22 21345975 C T 0 0 1 0 0 0 1 Positive
AutG8216LZTR1 - 22 21350080 G T 0 0 1 0 0 0 1 Positive
AutG6545SLC7A4 - 22 21385337 G A 0 0 1 0 0 0 1
AutG400891LOC400891 - 22 21407765 G C 0 0 1 0 0 0 1
AutG8940TOP3B - 22 22312975 A G 0 0 1 0 0 0 1 Positive
AutG8940TOP3B - 22 22328718 GA G 0 0 1 0 0 0 1
AutG96610LOC96610 - 22 22677176 T C 0 0 1 0 0 0 1
AutG96610LOC96610 - 22 22677182 C A 0 0 1 0 0 0 1
AutG23532PRAME - 22 22892470 T C 0 0 1 0 0 0 1
AutG100423062IGLL5 - 22 23230296 G C 0 0 1 0 0 0 1
AutG100423062IGLL5 - 22 23235930 G A 0 0 1 0 0 0 1
AutG3543IGLL1 - 22 23917192 G T 0 0 1 0 0 0 1
AutG23523CABIN1 - 22 24452747 C T 0 0 1 0 0 0 1 Positive
AutG23384SPECC1L - 22 24761563 A G 0 0 1 0 0 0 1
AutG2678GGT1 - 22 25024161 G A 0 0 1 0 0 0 1
AutG440822PIWIL3 - 22 25123995 A G 0 0 1 0 0 0 1 Positive
AutG440822PIWIL3 - 22 25157845 C T 0 0 1 0 0 0 1
AutG129049SGSM1 - 22 25246264 G 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