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
AutG10403NDC80 - 18 2595619 C T 0 0 0 1 0 0 1
AutG4729NDUFV2 - 18 9122553 G A 0 0 0 1 0 0 1 Positive
AutG84203TXNDC2 - 18 9887371 C A 0 0 0 1 0 0 1
AutG56907SPIRE1 - 18 12496079 C T 0 0 0 1 0 0 1 Positive
AutG29919C18orf8 - 18 21100180 C A 0 0 0 1 0 0 1
AutG25925ZNF521 - 18 22807228 G A 0 0 0 1 0 0 1
AutG6860SYT4 - 18 40854059 G A 0 0 0 1 0 0 1
AutG57724EPG5 - 18 43535061 G A 0 0 0 1 0 0 1
AutG498ATP5A1 - 18 43669564 C T 0 0 0 1 0 0 1
AutG10892MALT1 - 18 56390408 C T 0 0 0 1 0 0 1
AutG10892MALT1 - 18 56400687 C T 0 0 0 1 0 0 1
AutG28316CDH20 - 18 59157888 G A 0 0 0 1 0 0 1
AutG54531MIER2 - 19 326548 C T 0 0 0 1 0 0 1 Positive
AutG83855KLF16 - 19 1854681 C G 0 0 0 1 0 0 1 Positive
AutG55702CCDC94 - 19 4251122 G A 0 0 0 1 0 0 1 Positive
AutG4298MLLT1 - 19 6222255 C T 0 0 0 1 0 0 1
AutG5623PSPN - 19 6375788 C T 0 0 0 1 0 0 1
AutG50509COL5A3 - 19 10087238 G A 0 0 0 1 0 0 1
AutG50509COL5A3 - 19 10092741 C T 0 0 0 1 0 0 1
- 19 10250926 G A 0 0 0 1 0 0 1

Page Counts: 420/584  
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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