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
AutG9743ARHGAP32 - 11 128844392 C C/G 0 0 0 0 1 0 1 Positive
AutG9743ARHGAP32 - 11 128844790 G C/G 0 0 0 0 1 0 1 Positive
AutG9743ARHGAP32 - 11 128848770 T C/T 0 0 0 0 1 0 1 Positive
AutG9743ARHGAP32 - 11 128851803 A A/C 0 0 0 0 1 0 1 Positive
AutG9743ARHGAP32 - 11 128934779 G A/G 0 0 0 0 1 0 1 Positive
AutG9743ARHGAP32 - 11 128963551 T C/T 0 0 0 0 1 0 1 Positive
AutG9743ARHGAP32 - 11 129062074 C C/T 0 0 0 0 1 0 1 Positive
AutG219938SPATA19 - 11 133712408 C T 0 0 0 0 1 0 1
AutG117196MRGPRX4 - 11 18195609 C T 0 0 0 0 1 0 1
AutG10077TSPAN32 - 11 2339146-147 TC - 0 0 0 0 1 0 1
AutG196296DCDC5 - 11 31268520 C T 0 0 0 0 1 0 1
AutG26610ELP4 - 11 31686481 T C 0 0 0 0 1 0 1
AutG55226NAT10 - 11 34167721-22 - A 0 0 0 0 1 0 1
AutG26298EHF - 11 34764389 C - 0 0 0 0 1 0 1
AutG143458LDLRAD3 - 11 36057670 G A 0 0 0 0 1 0 1
AutG6786STIM1 - 11 4091409 A G 0 0 0 0 1 0 1
AutG119774OR52K2 - 11 4471469 A C 0 0 0 0 1 0 1
AutG143503OR51E1 - 11 4674652 A G 0 0 0 0 1 0 1
AutG79841AGBL2 - 11 47711820 A G 0 0 0 0 1 0 1
AutG119682OR51L1 - 11 5020933 A T 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