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
AutG63974NEUROD6rs10238918 - - - - 0 1 0 0 0 0 1 Negative
AutG26047CNTNAP2rs10262822 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs1034825 - - - - 0 1 0 0 0 0 1 Positive
AutG53942CNTN5rs1035339 1 99866660 C C 0 1 0 0 0 0 1 Positive
AutG6263RYR3rs1036005 1 34112825 C C 0 1 0 0 0 0 1 Negative
AutG143458LDLRAD3rs1039205 1 36711834 G C 0 1 0 0 0 0 1 Negative
AutG6532SLC6A4rs1042173 1 28525011 A G 0 1 0 0 0 0 1
AutG5021OXTRrs1042778 3 8794545 G C 0 1 0 0 0 0 1 Positive
AutG9378NRXN1rs1045881 - - - - 0 1 0 0 0 0 1 Negative
AutGDMT1rs1048230 1 51386066 A C 0 1 0 0 0 0 1 Positive
AutG2898GRIK2rs10485271 6 102017666 T C 0 1 0 0 0 0 1 Positive
AutG5649RELNrs10487167 - - - - 0 1 0 0 0 0 1 Positive
AutG1600DAB1rs10489669 1 58345238 T C 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs10492141 1 14045250 T C 0 1 0 0 0 0 1
AutG2739GLO1rs1049346 6 38670837 G C 0 1 0 0 0 0 1 Negative
AutG6573SLC19A1rs1051266 2 46957794 T A 0 1 0 0 0 0 1 Positive
rs10519124 2 67965997 C A 0 1 0 0 0 0 1 Positive
AutG93986FOXP2rs1058335 - - - - 0 1 0 0 0 0 1 Negative
AutGLAT1rs1060253 - - - - 0 1 0 0 0 0 1 Positive
AutGLAT1rs1060257 - - - - 0 1 0 0 0 0 1 Positive

Page Counts: 82/584  
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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