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
AutG492ATP2B3rs2239683 X 152826000 T A 0 1 0 0 0 0 1 Negative
AutG10999SLC27A4rs2240953 9 131110892 G C 0 1 0 0 0 0 1 Positive
AutG2571GAD1rs2241165 2 171678379 C A 0 1 0 0 0 0 1 Negative
AutGDMT1rs224446 - - - - 0 1 0 0 0 0 1 Positive
AutGDMT1rs224454 - - - - 0 1 0 0 0 0 1 Positive
AutG5649RELNrs2245617 - - - - 0 1 0 0 0 0 1 Positive
AutGDMT1rs224568 - - - - 0 1 0 0 0 0 1 Positive
AutGDMT1rs224589 - - - - 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs2268097 1 13752832 A A 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs2268102 1 13822239 C C 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs2268120 1 13877888 A A 0 1 0 0 0 0 1
AutG5021OXTRrs2268491 3 8800398 C C 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs2268493 3 8800840 T C 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs2268494 3 8802046 T A 0 1 0 0 0 0 1
AutG5021OXTRrs2268495 3 8807535 G A 0 1 0 0 0 0 1 Positive
AutG2571GAD1rs2270335 2 171674696 T A 0 1 0 0 0 0 1 Negative
AutG9369NRXN3rs2270964 - - - - 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs2272366 X 23392995 A A 0 1 0 0 0 0 1 Negative
AutG1271CNTFRrs2274592 9 34552437 C C 0 1 0 0 0 0 1 Positive
AutG7804LRP8rs2275087 1 53694388 T C 0 1 0 0 0 0 1 Positive

Page Counts: 95/584  
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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