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
AutG9839ZEB2 - 2 145157478 A T 0 0 0 0 1 0 1
AutG728773PABPC1P2 - 2 146257927 A - 0 0 0 0 1 0 1
AutG92ACVR2A - 2 147956142 T A 0 0 0 0 1 0 1
AutG55777MBD5 - 2 149215885 G A 0 0 0 0 1 0 1
AutG55777MBD5 - 2 149226221 A G 0 0 0 0 1 0 1
AutG55777MBD5 - 2 149226357 G A 0 0 0 0 1 0 1
AutG55777MBD5 - 2 149227374 A T 0 0 0 0 1 0 1
AutG55777MBD5 - 2 149527051 T W 0 0 0 0 1 0 1 Positive
AutG375287RBM43 - 2 152108097 A - 0 0 0 0 1 0 1
AutG4703NEB - 2 152468776 T C 0 0 0 0 1 0 1
AutG2820GPD2 - 2 157427677 C T 0 0 0 0 1 0 1
AutG2888GRB14 - 2 164972793 G A 0 0 0 0 1 0 1
AutG6328SCN3A - 2 166011075 C T 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166170611 A A/C 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166179835 C C/T 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166210825 G A/G 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166221707 G A/G 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166221743 T C/T 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166223735 C C/T 0 0 0 0 1 0 1 Positive
AutG6326SCN2A - 2 166223772 G A/G 0 0 0 0 1 0 1 Positive

Page Counts: 481/584  
481 First  Previous  480  481  482  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