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
AutG5610EIF2AK2 - 2 37364142 G A 0 0 1 0 0 0 1
AutG90957DHX57 - 2 39053113 G A 0 0 1 0 0 0 1
AutG90957DHX57 - 2 39065068 T C 0 0 1 0 0 0 1
AutG90957DHX57 - 2 39090539 G A 0 0 1 0 0 0 1
AutG100271715ARHGEF33 - 2 39184185 A G 0 0 1 0 0 0 1
AutG728730LOC728730 - 2 39878591 C G 0 0 1 0 0 0 1
AutG6546SLC8A1 - 2 41448453 C G 0 0 1 0 0 0 1
AutG10128LRPPRC - 2 44184566 G A 0 0 1 0 0 0 1
AutG10736SIX2 - 2 45235850 T A 0 0 1 0 0 0 1
AutG55133SRBD1 - 2 45789855 G R 0 0 1 0 0 0 1
AutG5581PRKCE - 2 45910260 T C 0 0 1 0 0 0 1
AutG5581PRKCE - 2 45910289 T C 0 0 1 0 0 0 1
AutG2034EPAS1 - 2 46603670 C T 0 0 1 0 0 0 1
AutG90411MCFD2 - 2 47136241 C T 0 0 1 0 0 0 1
AutG4072EPCAM - 2 47612316 A G 0 0 1 0 0 0 1
AutG4436MSH2 - 2 47643525 G A 0 0 1 0 0 0 1
AutG4436MSH2 - 2 47672716 T A 0 0 1 0 0 0 1
AutG2956MSH6 - 2 48026852 G R 0 0 1 0 0 0 1
AutG80204FBXO11 - 2 48035295 CAG C 0 0 1 0 0 0 1
AutG129285KLRAQ1 - 2 48692688 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