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
AutG4897NRCAMrs2300012 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2300039 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2300043 - - - - 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs2300045 - - - - 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs2300238 1 13813330 C C 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs2300257 1 13868507 G A 0 1 0 0 0 0 1
AutG2904GRIN2Brs2300266 1 13951767 T G 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs2300273 1 13990434 T C 0 1 0 0 0 0 1
AutG7472WNT2rs2301633 - - - - 0 1 0 0 0 0 1 Positive
AutG9378NRXN1rs2303298 2 50850686 G A 0 1 0 0 0 0 1 Positive
AutG139411PTCHD1rs2363129 X 23372425 G C 0 1 0 0 0 0 1 Negative
AutG5021OXTRrs237885 3 8795543 T G 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs237887 3 8797042 G A 0 1 0 0 0 0 1 Positive
AutG1271CNTFRrs2381164 9 34553968 G C 0 1 0 0 0 0 1 Positive
AutG1271CNTFRrs2381165 9 34553938 G C 0 1 0 0 0 0 1 Positive
AutG6263RYR3rs2467565 1 33892584 G A 0 1 0 0 0 0 1 Negative
AutG3912LAMB1rs25659 - - - - 0 1 0 0 0 0 1
AutGGIRDINrs2576696 2 55505681 T A 0 1 0 0 0 0 1 Positive
AutG6263RYR3rs2596175 1 33779879 A A 0 1 0 0 0 0 1 Negative
AutG6263RYR3rs2676052 1 33681877 T A 0 1 0 0 0 0 1 Negative

Page Counts: 97/584  
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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