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
AutG6804STX1Ars2228607 - - - - 0 2 0 0 0 0 2 Negative
AutG2557GABRA4rs2229940 4 46995366 G A 0 2 0 0 0 0 2 Positive
AutG4233METrs2237711 - - - - 0 2 0 0 0 0 2 Positive
AutG2571GAD1rs2241164 2 171686559 C A 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs2268490 3 8797085 C C 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs2268491 3 8800398 C C 0 2 0 0 0 0 2 Negative
AutG5021OXTRrs2268493 3 8800840 T C 0 2 0 0 0 0 2 Negative
AutG5021OXTRrs2268494 3 8802046 T A 0 2 0 0 0 0 2 Positive
AutG7461CYLN2rs229890 - - - - 0 2 0 0 0 0 2 Negative
AutG3690ITGB3rs2317676 1 45388283 A A 0 2 0 0 0 0 2 Negative
AutG1746DLX2rs2357322 2 172972828 G C 0 2 0 0 0 0 2 Negative
AutG2020EN2rs2361688 - - - - 0 2 0 0 0 0 2 Positive
AutG2020EN2rs2361689 - - - - 0 2 0 0 0 0 2 Positive
AutG121278TPH2rs2367895 1 72621195 C G 0 2 0 0 0 0 2 Negative
AutG5021OXTRrs237884 3 8793585 G A 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs237888 3 8797095 T C 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs237889 3 8802483 T C 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs237894 3 8806531 G C 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs237895 3 8807423 T C 0 2 0 0 0 0 2 Positive
AutG5021OXTRrs237897 3 8808285 A A 0 2 0 0 0 0 2 Positive

Page Counts: 545/584  
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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