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
AutG116983ACAP3 - 1 1235431 G A 0 0 1 0 0 0 1
AutG6339SCNN1D - 1 1225729 G A 0 0 1 0 0 0 1
AutG6339SCNN1D - 1 1222518 C A 0 0 1 0 0 0 1
AutG375790AGRN - 1 981205 T C 0 0 1 0 0 0 1 Positive
AutG375790AGRN - 1 980641 CCTGGCTGG C 0 0 1 0 0 0 1
AutG375790AGRN - 1 955717 C T 0 0 1 0 0 0 1
AutG84069PLEKHN1 - 1 905674 G A 0 0 1 0 0 0 1
AutG339451KLHL17 - 1 897739 T C 0 0 1 0 0 0 1 Positive
AutG339451KLHL17 - 1 897349 G A 0 0 1 0 0 0 1
AutG85452CFAP74 - 1 1900192 C T 0 0 0 1 0 0 1
AutG10419PRMT5 - 14 23392075 TG T 0 0 1 0 0 0 1
AutG64806IL25 - 14 23845075 C T 0 0 1 0 0 0 1 Positive
AutG4624MYH6 - 14 23856995 G T 0 0 1 0 0 0 1
AutG8906AP1G2 - 14 24033756 C G 0 0 1 0 0 0 1
AutG8906AP1G2 - 14 24034326 C T 0 0 1 0 0 0 1
AutG8906AP1G2 - 14 24034327 C T 0 0 1 0 0 0 1
AutG728635DHRS4L1 - 14 24513037 G R 0 0 1 0 0 0 1
AutG7051TGM1 - 14 24731032 C CG 0 0 1 0 0 0 1
AutG57523NYNRIN - 14 24885730 G A 0 0 1 0 0 0 1
AutG2290FOXG1 - 14 29237624 C T 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