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
AutG4774NFIA - 1 61818236 C T 0 0 2 0 0 0 2 Positive
AutGEIF2C1/AGO1 - 1 36367566 C G 0 0 2 0 0 0 2
AutG1188CLCNKB - 1 16376358 C G 0 0 2 0 0 0 2
AutG26155NOC2L - 1 881802 C T 0 0 2 0 0 0 2 Positive
AutG7051TGM1 - 14 24724606 G A 0 0 2 0 0 0 2 Positive
AutG5587PRKD1 - 14 30102082 T C 0 0 2 0 0 0 2 Positive
AutG55015PRPF39 - 14 45571806 G A 0 0 2 0 0 0 2
AutG23224SYNE2 - 14 64532269 G A 0 0 2 0 0 0 2
AutG6400SEL1L - 14 81952041 T C 0 0 2 0 0 0 2
AutG9623TCL1B - 14 96152831 A G 0 0 2 0 0 0 2
AutG7127TNFAIP2 - 14 103598072 G A 0 0 2 0 0 0 2
AutG283638KIAA0284 - 14 105354151 G A 0 0 2 0 0 0 2
AutG113146AHNAK2 - 14 105411605 C G 0 0 2 0 0 0 2
AutG23168RTF1 - 15 41745214 A C 0 0 2 0 0 0 2
AutG9318COPS2 - 15 49426143 G A 0 0 2 0 0 0 2 Positive
AutG9318COPS2 - 15 49429353 C T 0 0 2 0 0 0 2
AutG54629FAM63B - 15 59064294 A G 0 0 2 0 0 0 2
AutG5604MAP2K1 - 15 66729163 C T 0 0 2 0 0 0 2 Positive
AutG8554PIAS1 - 15 68378807 G A 0 0 2 0 0 0 2
AutG9915ARNT2 - 15 80806697 A G 0 0 2 0 0 0 2

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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