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
AutGUNC79 - 14 94153024 C G 0 0 1 0 0 0 1
AutG57062DDX24 - 14 94526572 G A 0 0 1 0 0 0 1
AutG57718PPP4R4 - 14 94674843 C T 0 0 1 0 0 0 1
AutG57718PPP4R4 - 14 94674915 T A 0 0 1 0 0 0 1
AutG57718PPP4R4 - 14 94732223 A G 0 0 1 0 0 0 1
AutG5265SERPINA1 - 14 94867212 G C 0 0 1 0 0 0 1
AutG23405DICER1 - 14 95571439 C T 0 0 1 0 0 0 1 Positive
AutG23405DICER1 - 14 95574729 G A 0 0 1 0 0 0 1 Positive
AutG161176C14orf49 - 14 95954489 A C 0 0 1 0 0 0 1
AutG55102ATG2B - 14 96756895 T C 0 0 1 0 0 0 1
AutG55102ATG2B - 14 96794738 T G 0 0 1 0 0 0 1
AutG7443VRK1 - 14 97322943 G T 0 0 1 0 0 0 1
AutG388011C14orf64 - 14 98449323 G A 0 0 1 0 0 0 1
AutG51466EVL - 14 100551047 G A 0 0 1 0 0 0 1 Positive
AutG51466EVL - 14 100599090 GAGA G 0 0 1 0 0 0 1
AutG79446WDR25 - 14 100996272 C T 0 0 1 0 0 0 1
AutG8788DLK1 - 14 101200588 C T 0 0 1 0 0 0 1
AutG1778DYNC1H1 - 14 102446851 C T 0 0 1 0 0 0 1 Positive
AutG1778DYNC1H1 - 14 102453029 G T 0 0 1 0 0 0 1 Positive
AutG1778DYNC1H1 - 14 102460577 A G 0 0 1 0 0 0 1

Page Counts: 211/584  
211 First  Previous  210  211  212  Next  Last

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