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
AutG645974PABPC1L2B - X 72223742 CG C 0 0 1 0 0 0 1
AutG340529PABPC1L2A - X 72298960 AC A 0 0 1 0 0 0 1
AutG139599MAGEE2 - X 75078891 G A 0 0 1 0 0 0 1
AutG139599MAGEE2 - X 75116155 A G 0 0 1 0 0 0 1
AutG1349COX7B - X 77158235 G A 0 0 1 0 0 0 1
AutG1349COX7B - X 77158244 T C 0 0 1 0 0 0 1 Positive
AutG50945TBX22 - X 79277939 G T 0 0 1 0 0 0 1
AutG50945TBX22 - X 79279657 G A 0 0 1 0 0 0 1 Positive
AutG5456POU3F4 - X 82764134 G - 0 0 1 0 0 0 1
AutG1538CYLC1 - X 83128308 A T 0 0 1 0 0 0 1
AutG1121CHM - X 85233895 C T 0 0 1 0 0 0 1 Positive
AutG1121CHM - X 85247867 G A 0 0 1 0 0 0 1
AutG1730DIAPH2 - X 97039795 A T 0 0 1 0 0 0 1
AutG3188HNRNPH2 - X 100667398 T A 0 0 1 0 0 0 1
AutG9737GPRASP1 - X 101912545 C T 0 0 1 0 0 0 1 Positive
AutG9737GPRASP1 - X 101912889 A G 0 0 1 0 0 0 1
AutG203447NRK - X 105190409 A G 0 0 1 0 0 0 1
AutG92129RIPPLY1 - X 106145431 C T 0 0 1 0 0 0 1
AutG8471IRS4 - X 107983618 T C 0 0 1 0 0 0 1
AutG3597IL13RA1 - X 117948262 C T 0 0 1 0 0 0 1

Page Counts: 401/584  
401 First  Previous  400  401  402  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