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
AutG4297MLL - 11 118360578 AC A 0 0 1 0 0 0 1
AutG257160RNF214 - 11 117152397 C T 0 0 1 0 0 0 1
AutG257160RNF214 - 11 117109607 G A 0 0 1 0 0 0 1
AutG51092SIDT2 - 11 117062673 C T 0 0 1 0 0 0 1
AutG5049PAFAH1B2 - 11 117034592 C G 0 0 1 0 0 0 1 Positive
AutG23387SIK3 - 11 116732054 G A 0 0 1 0 0 0 1
AutG345APOC3 - 11 116701581 G A 0 0 1 0 0 0 1 Positive
AutG116519APOA5 - 11 116661599 C G 0 0 1 0 0 0 1
AutG54827FAM55D - 11 114441796 T G 0 0 1 0 0 0 1
AutG255239ANKK1 - 11 113270025 G A 0 0 1 0 0 0 1
AutG4684NCAM1 - 11 113114295 G C 0 0 1 0 0 0 1
AutG3316HSPB2 - 11 111784275 C Y 0 0 1 0 0 0 1
AutG5519PPP2R1B - 11 111630612 C G 0 0 1 0 0 0 1 Positive
AutG5519PPP2R1B - 11 111626054 G A 0 0 1 0 0 0 1 Positive
AutG23086EXPH5 - 11 108384403 T C 0 0 1 0 0 0 1
AutG23086EXPH5 - 11 108381396 C A 0 0 1 0 0 0 1
AutG4863NPAT - 11 108044473 G A 0 0 1 0 0 0 1
AutG4863NPAT - 11 108043794 T G 0 0 1 0 0 0 1
AutG8065CUL5 - 11 107944174 G R 0 0 1 0 0 0 1
AutG55531ELMOD1 - 11 107501449 A C 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