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
AutG158471PRUNE2 - 9 79325023 G A 0 0 2 0 0 0 2
AutG11224RPL35 - 9 127620304 G A 0 0 2 0 0 0 2 Positive
AutG6812STXBP1 - 9 130444788 C T 0 0 2 0 0 0 2 Positive
AutG10319LAMC3 - 9 133942350 G A 0 0 2 0 0 0 2 Positive
AutG9651PLCH2 - 1 2411622 G A 0 0 0 2 0 0 2
AutG55187VPS13D - 1 12428626 C T 0 0 0 2 0 0 2
AutG731C8A - 1 57347157 C T 0 0 0 2 0 0 2
AutG9900SV2A - 1 149881028 C G 0 0 0 2 0 0 2
AutG343171OR2W3 - 1 248059630 G A 0 0 0 2 0 0 2 Positive
AutG53904MYO3A - 10 26455055 C T 0 0 0 2 0 0 2
AutG84986ARHGAP19 - 10 99024633 G A 0 0 0 2 0 0 2 Positive
AutG115399LRRC56 - 11 551280 G A 0 0 0 2 0 0 2
AutG960CD44 - 11 35227734 T C 0 0 0 2 0 0 2
AutG6749SSRP1 - 11 57099680 C G 0 0 0 2 0 0 2 Positive
AutG24145PANX1 - 11 93913089 C T 0 0 0 2 0 0 2
AutG8085KMT2D - 12 49433800 C G 0 0 0 2 0 0 2
AutG2262GPC5 - 13 92345513 T C 0 0 0 2 0 0 2 Positive
AutG55757UGGT2 - 13 96506641 T A 0 0 0 2 0 0 2 Positive
AutG9369NRXN3 - 14 79434627 G A 0 0 0 2 0 0 2 Positive
AutG2200FBN1 - 15 48717681 G A 0 0 0 2 0 0 2

Page Counts: 576/584  
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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