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
AutG6499SKIV2L - 6 31929737 C T 0 0 0 0 1 0 1
AutG7148TNXB - 6 32049895 G T 0 0 0 0 1 0 1
AutG8831SYNGAP1 - 6 33411159 G A/G 0 0 0 0 1 0 1 Positive
AutG8831SYNGAP1 - 6 33411463 C G 0 0 0 0 1 0 1 Positive
AutG222663SCUBE3 - 6 35212504 G A 0 0 0 0 1 0 1
AutG50619DEF6 - 6 35289153 A C 0 0 0 0 1 0 1
AutG2289FKBP5 - 6 35564376 A T 0 0 0 0 1 0 1
AutG55633TBC1D22B - 6 37280756 G A 0 0 0 0 1 0 1 Positive
AutG114781BTBD9 - 6 38338517 A G 0 0 0 0 1 0 1
AutG1769DNAH8 - 6 38957948 C T 0 0 0 0 1 0 1
AutG2979GUCA1B - 6 42153428 C A 0 0 0 0 1 0 1
AutG5190PEX6 - 6 42932835 C T 0 0 0 0 1 0 1
AutG9820CUL7 - 6 43014022 G A 0 0 0 0 1 0 1
AutG5754PTK7 - 6 43109472 G A 0 0 0 0 1 0 1
AutG5429POLH - 6 43582176 C A 0 0 0 0 1 0 1
AutGADGRF1 - 6 47105384 A - 0 0 0 0 1 0 1
AutG7180CRISP2 - 6 49663567 A G 0 0 0 0 1 0 1
AutG245915DEFB112 - 6 50502872 A - 0 0 0 0 1 0 1
AutG5314PKHD1 - 6 51617605 A G 0 0 0 0 1 0 1
AutG5314PKHD1 - 6 51893107 T C 0 0 0 0 1 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