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
AutG89857KLHL6 - 3 183209871 G C 0 0 1 0 0 0 1 Positive
AutG79929MAP6D1 - 3 183535206 T C 0 0 1 0 0 0 1 Positive
AutG10057ABCC5 - 3 183667631 G A 0 0 1 0 0 0 1 Positive
AutG10057ABCC5 - 3 183682987 T G 0 0 1 0 0 0 1 Positive
AutG8893EIF2B5 - 3 183861920 T G 0 0 1 0 0 0 1 Positive
AutG1857DVL3 - 3 183887912 G GT 0 0 1 0 0 0 1
AutG9718ECE2 - 3 183994332 G A 0 0 1 0 0 0 1
AutG1981EIF4G1 - 3 184042810 A M 0 0 1 0 0 0 1
AutG1981EIF4G1 - 3 184049725 T G 0 0 1 0 0 0 1
AutG2049EPHB3 - 3 184297701 C T 0 0 1 0 0 0 1
AutG64110MAGEF1 - 3 184429025 C A 0 0 1 0 0 0 1
AutG23355VPS8 - 3 184632833 A G 0 0 1 0 0 0 1 Positive
AutG9175MAP3K13 - 3 185198194 G A 0 0 1 0 0 0 1
AutG90407TMEM41A - 3 185209431 A G 0 0 1 0 0 0 1
AutG200879LIPH - 3 185229388 T C 0 0 1 0 0 0 1 Positive
AutG1608DGKG - 3 186006628 C A 0 0 1 0 0 0 1
AutG1427CRYGS - 3 186256586 G A 0 0 1 0 0 0 1 Positive
AutG344892RTP2 - 3 187419873 T A 0 0 1 0 0 0 1
AutG8626TP63 - 3 189379852 C T 0 0 1 0 0 0 1
AutG55214LEPREL1 - 3 189838228 G A 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