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
AutGGEMIN2 - 14 39605657 C T 0 0 1 0 0 0 1
AutG4253CTAGE5 - 14 39777734 A G 0 0 1 0 0 0 1
AutG254170FBXO33 - 14 40267555 A G 0 0 1 0 0 0 1
AutG145581LRFN5 - 14 42356586 G A 0 0 1 0 0 0 1 Positive
AutG54813KLHL28 - 14 45400640 A G 0 0 1 0 0 0 1 Positive
AutG57697FANCM - 14 45650888 C T 0 0 1 0 0 0 1
AutG161357MDGA2 - 14 47311217 C T 0 0 1 0 0 0 1
AutG100506433LOC100506433 - 14 49229746 A G 0 0 1 0 0 0 1
AutG11183MAP4K5 - 14 50912820 T C 0 0 1 0 0 0 1
AutG145447ABHD12B - 14 51355598 GTATCAATTATC GTATC 0 0 1 0 0 0 1
AutG5836PYGL - 14 51410920 A C 0 0 1 0 0 0 1 Positive
AutG122786FRMD6 - 14 52182165 T C 0 0 1 0 0 0 1
AutG22795NID2 - 14 52472448 TTTTA TTTTATTTA 0 0 1 0 0 0 1
AutG22795NID2 - 14 52477726 C T 0 0 1 0 0 0 1
AutG57544TXNDC16 - 14 52955112 A C 0 0 1 0 0 0 1
AutG11169WDHD1 - 14 55477154 A G 0 0 1 0 0 0 1 Positive
AutGTMEM260 - 14 57075985 A G 0 0 1 0 0 0 1
AutG10640EXOC5 - 14 57676376 T C 0 0 1 0 0 0 1 Positive
AutGAP5M1 - 14 57741429 T C 0 0 1 0 0 0 1 Positive
AutG122830NAA30 - 14 57857680 C T 0 0 1 0 0 0 1 Positive

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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