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
AutG5579PRKCBrs198163 1 24184444 T C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs198200 1 24147909 C C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs198202 1 24149041 A A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs198207 1 24178133 A A 0 1 0 0 0 0 1 Positive
AutG406ARNTLrs1982350 1 13350131 A C 0 1 0 0 0 0 1 Negative
AutG2058EPRSrs1982986 - - - - 0 1 0 0 0 0 1 Negative
AutG22871NLGN1rs1983060 3 173309839 A C 0 1 0 0 0 0 1 Positive
AutG8913CACNA1Grs198547 1 48651811 A A 0 1 0 0 0 0 1 Positive
AutG8913CACNA1Grs198550 1 48652875 A A 0 1 0 0 0 0 1 Positive
AutG8913CACNA1Grs198555 1 48659843 A A 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs1989647 1 23959420 G C 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs1990162 - - - - 0 1 0 0 0 0 1 Positive
AutG3675ITGA3rs199147 1 48135567 C A 0 1 0 0 0 0 1 Negative
AutG7299TYRrs2000554 1 88935941 T A 0 1 0 0 0 0 1 Negative
AutG10923SUB1rs2008245 5 32584585 G C 0 1 0 0 0 0 1 Negative
AutG3690ITGB3rs2015729 1 45354493 G C 0 1 0 0 0 0 1 Negative
AutG2644GCHFRrs2016546 1 41056440 G G 0 1 0 0 0 0 1 Negative
AutG4763NF1rs2018634 1 29560678 A A 0 1 0 0 0 0 1 Negative
AutG1312COMTrs2020917 2 19928884 C C 0 1 0 0 0 0 1 Negative
AutG6532SLC6A4rs2020930 1 28566041 C A 0 1 0 0 0 0 1 Positive

Page Counts: 27/584  
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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