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
AutG8408ULK1 - 12 132400965 C T 0 0 2 0 0 0 2
AutG114795TMEM132B - 12 126139127 C T 0 0 2 0 0 0 2
AutG79867TCTN2 - 12 124191337 C T 0 0 2 0 0 0 2 Positive
AutG8562DENR - 12 123246737 G A 0 0 2 0 0 0 2 Positive
AutGHCAR1 - 12 123213933 G A 0 0 2 0 0 0 2
AutG254050LRRC43 - 12 122685164 A G 0 0 2 0 0 0 2
AutG254050LRRC43 - 12 122685163 A G 0 0 2 0 0 0 2
AutG80724ACAD10 - 12 112187030 G T 0 0 2 0 0 0 2 Positive
AutG51019CCDC53 - 12 102437956 A G 0 0 2 0 0 0 2
AutG283431GAS2L3 - 12 101011562 T A 0 0 2 0 0 0 2
AutG121457IKBIP - 12 99020493 T C 0 0 2 0 0 0 2
AutG196441ZFC3H1 - 12 72004328 T C 0 0 2 0 0 0 2
AutG23329TBC1D30 - 12 65269243 C T 0 0 2 0 0 0 2
AutG57522SRGAP1 - 12 64519821 C T 0 0 2 0 0 0 2
AutG6773STAT2 - 12 56744934 G A 0 0 2 0 0 0 2 Positive
AutG283375SLC39A5 - 12 56629024 C T 0 0 2 0 0 0 2 Positive
AutG6601SMARCC2 - 12 56566368 C A 0 0 2 0 0 0 2
AutG3678ITGA5 - 12 54793722 C A 0 0 2 0 0 0 2
AutG54934C12orf41 - 12 49062942 G A 0 0 2 0 0 0 2
AutG54682MANSC1 - 12 12483385 G A 0 0 2 0 0 0 2

Page Counts: 562/584  
562 First  Previous  561  562  563  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