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
AutG375056MIA3 - 1 222835428 G A 0 0 1 0 0 0 1
AutG375056MIA3 - 1 222805584 A G 0 0 1 0 0 0 1
AutG79802HHIPL2 - 1 222697001 A G 0 0 1 0 0 0 1
AutG4139MARK1 - 1 220835359 G A 0 0 1 0 0 0 1 Positive
AutG25782RAB3GAP2 - 1 220363844 A C 0 0 1 0 0 0 1
AutG10380BPNT1 - 1 220233081 C A 0 0 1 0 0 0 1 Positive
AutG2058EPRS - 1 220195788 C T 0 0 1 0 0 0 1 Positive
AutG2058EPRS - 1 220170538 ATCT A 0 0 1 0 0 0 1
AutG2104ESRRG - 1 217030943 G C 0 0 1 0 0 0 1
AutG2104ESRRG - 1 217016603 T A 0 0 1 0 0 0 1
AutG51133KCTD3 - 1 215781447 G A 0 0 1 0 0 0 1
AutG5784PTPN14 - 1 214557735 G A 0 0 1 0 0 0 1 Positive
AutG28982FLVCR1 - 1 213061871 G A 0 0 1 0 0 0 1 Positive
AutG4751NEK2 - 1 211843642 G A 0 0 1 0 0 0 1 Positive
AutG55733HHAT - 1 210522328 C T 0 0 1 0 0 0 1
AutGDIEXF - 1 210016834 G A 0 0 1 0 0 0 1 Positive
AutGDIEXF - 1 210014329 C T 0 0 1 0 0 0 1
AutG1378CR1 - 1 207793410 C T 0 0 1 0 0 0 1 Positive
AutG725C4BPB - 1 207265132 A G 0 0 1 0 0 0 1
AutG5208PFKFB2 - 1 207237157 AT A 0 0 1 0 0 0 1

Page Counts: 184/584  
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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