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
AutG100422937MIR4275 - 4 30653418 A G 0 0 0 0 1 0 1
AutG4043LRPAP1 - 4 3526715 C T 0 0 0 0 1 0 1
AutGLOC101928622 - 4 35825974 C A 0 0 0 0 1 0 1
AutG401124DTHD1 - 4 36340755 C A 0 0 0 0 1 0 1
AutG102466247MIR1273H - 4 39548914 AA - 0 0 0 0 1 0 1
AutG23244PDS5A - 4 39978130 T C 0 0 0 0 1 0 1
AutG54502RBM47 - 4 40434858 C T 0 0 0 0 1 0 1
AutG2557GABRA4 - 4 46930759 A G 0 0 0 0 1 0 1
AutG152519NIPAL1 - 4 48038163 A G 0 0 0 0 1 0 1
AutG54360CYTL1 - 4 5016883 G A 0 0 0 0 1 0 1
AutGLOC101928851 - 4 58371243 G - 0 0 0 0 1 0 1
AutG101927186ADGRL3-AS1 - 4 64648588 AAAA - 0 0 0 0 1 0 1
AutG101927186ADGRL3-AS1 - 4 64648604 A - 0 0 0 0 1 0 1
AutG257236CCDC96 - 4 7043539 G T 0 0 0 0 1 0 1
AutG22902RUFY3 - 4 71634283 A G 0 0 0 0 1 0 1
AutG2926GRSF1 - 4 71691057 A G 0 0 0 0 1 0 1
AutG166824RASSF6 - 4 74447930 T C 0 0 0 0 1 0 1
AutGLINC01088 - 4 79913747 C T 0 0 0 0 1 0 1
AutGLINC01088 - 4 79913818 G - 0 0 0 0 1 0 1
AutG23001WDFY3 - 4 85598427 G A/G 0 0 0 0 1 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