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
AutG117194MRGPRX2 - 11 19076997 C T 0 0 1 0 0 0 1
AutG259249MRGPRX1 - 11 18955754 C A 0 0 1 0 0 0 1
AutG259249MRGPRX1 - 11 18955753 C A 0 0 1 0 0 0 1
AutG55293UEVLD - 11 18591900 C T 0 0 1 0 0 0 1
AutG11234HPS5 - 11 18313160 T C 0 0 1 0 0 0 1
AutG10083USH1C - 11 17552952 CG C 0 0 1 0 0 0 1
AutG6833ABCC8 - 11 17436882 C CT 0 0 1 0 0 0 1
AutG4925NUCB2 - 11 17333437 T C 0 0 1 0 0 0 1 Positive
AutG5286PIK3C2A - 11 17139181 T C 0 0 1 0 0 0 1
AutG144100PLEKHA7 - 11 16863104 A C 0 0 1 0 0 0 1
AutG387755INSC - 11 15793507 G A 0 0 1 0 0 0 1
AutG387755INSC - 11 15222445 AC A 0 0 1 0 0 0 1
AutG84188FAR1 - 11 13733355 G A 0 0 1 0 0 0 1
AutG406ARNTL - 11 13399901 ACCCC ACCCCC 0 0 1 0 0 0 1
AutG7003TEAD1 - 11 12819714 T G 0 0 1 0 0 0 1
AutG7003TEAD1 - 11 12785933 C T 0 0 1 0 0 0 1 Positive
AutG9645MICAL2 - 11 12247918 G A 0 0 1 0 0 0 1
AutG55031USP47 - 11 11969599 G A 0 0 1 0 0 0 1 Positive
AutG374378GALNTL4 - 11 11509603 T C 0 0 1 0 0 0 1
AutG374378GALNTL4 - 11 11394085 C T 0 0 1 0 0 0 1

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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