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
AutG10594PRPF8 - 17 1580857 C G 0 0 1 0 0 0 1
AutG727910TLCD2 - 17 1611428 C A 0 0 1 0 0 0 1 Positive
AutG124997WDR81 - 17 1636104 G A 0 0 1 0 0 0 1 Positive
AutG124997WDR81 - 17 1636946 G A 0 0 1 0 0 0 1
AutG124997WDR81 - 17 1637187 C G 0 0 1 0 0 0 1 Positive
AutG1801DPH1 - 17 1943117 G T 0 0 1 0 0 0 1 Positive
AutG124641OVCA2 - 17 1945489 ACCCCCC ACCCCC 0 0 1 0 0 0 1
AutG23277KIAA0664 - 17 2595709 G A 0 0 1 0 0 0 1
AutG23108RAP1GAP2 - 17 2901580 G A 0 0 1 0 0 0 1
AutG26189OR1A2 - 17 3101296 C A 0 0 1 0 0 0 1
AutG8387OR1E1 - 17 3301128 G A 0 0 1 0 0 0 1
AutG5023P2RX1 - 17 3801158 C T 0 0 1 0 0 0 1
AutG23140ZZEF1 - 17 3978572 C T 0 0 1 0 0 0 1 Positive
AutG51479ANKFY1 - 17 4086687 TCCTA T 0 0 1 0 0 0 1
AutG10514MYBBP1A - 17 4444853 G K 0 0 1 0 0 0 1
AutG50488MINK1 - 17 4789777 T C 0 0 1 0 0 0 1 Positive
AutG26001RNF167 - 17 4847898 A G 0 0 1 0 0 0 1 Positive
AutG2027ENO3 - 17 4859881 - - 0 0 1 0 0 0 1
AutG10749KIF1C - 17 4905942 G A 0 0 1 0 0 0 1
AutG9135RABEP1 - 17 5276712 A G 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