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
AutG4988OPRM1rs10485057 - - - - 2 0 0 0 0 0 2 Positive
AutGPFTK1rs10487995 - - - - 2 0 0 0 0 0 2 Positive
AutG2903GRIN2Ars10492827 1 9868758 A A 2 0 0 0 0 0 2 Positive
AutG3953LEPRrs10493380 1 66046117 A A 2 0 0 0 0 0 2 Positive
AutG6561SLC13A1rs11978485 - - - - 2 0 0 0 0 0 2 Positive
AutG5649RELNrs12531131 - - - - 2 0 0 0 0 0 2 Positive
AutG83943IMMP2Lrs12537269 - - - - 2 0 0 0 0 0 2 Positive
AutG2903GRIN2Ars1362319 1 9870086 A A 2 0 0 0 0 0 2 Positive
AutG5649RELNrs1404431 - - - - 2 0 0 0 0 0 2 Positive
AutG5218CDK14rs1464000 - - - - 2 0 0 0 0 0 2 Positive
rs1471330 - - - - 2 0 0 0 0 0 2 Positive
AutG1814DRD3rs167771 3 113876275 G A 2 0 0 0 0 0 2 Positive
AutG4988OPRM1rs1799972 - - - - 2 0 0 0 0 0 2 Positive
AutG3953LEPRrs1805096 1 66102257 G C 2 0 0 0 0 0 2 Positive
AutG2903GRIN2Ars1875209 1 10038054 C C 2 0 0 0 0 0 2 Positive
AutG83943IMMP2Lrs2030781 - - - - 2 0 0 0 0 0 2 Positive
AutG9732DOCK4rs2217262 - - - - 2 0 0 0 0 0 2 Positive
AutG2903GRIN2Ars2267770 1 9865959 C C 2 0 0 0 0 0 2 Positive
AutG5021OXTRrs2268490 3 8797085 C C 2 0 0 0 0 0 2 Positive
AutG5021OXTRrs2301261 3 8810896 C A 2 0 0 0 0 0 2 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