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
AutG627BDNFrs1401635 1 27693991 C C 0 1 0 0 0 0 1 Negative
AutG10651MTX2rs1403993 2 177196114 G C 0 1 0 0 0 0 1 Negative
AutG10651MTX2rs1403996 2 177152343 G A 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs140670 1 27222015 T A 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs140672 1 27572192 G A 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs140673 1 27572329 A A 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs140676 1 27725673 T A 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs140677 1 27764968 C A 0 1 0 0 0 0 1 Positive
AutG5020OXTrs1410713 2 3060350 A A 0 1 0 0 0 0 1 Positive
AutG1428CRYMrs14122 1 21272591 G A 0 1 0 0 0 0 1 Negative
AutG55061SUSD4rs1418153 - - - - 0 1 0 0 0 0 1 Negative
AutG1407CRY1rs1420399 1 107417182 G A 0 1 0 0 0 0 1 Negative
AutG4232MESTrs1421140 - - - - 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs1432129 1 27232033 A G 0 1 0 0 0 0 1 Negative
AutG57194ATP10Crs1444621 1 26110472 T C 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs1449260 2 182333447 A C 0 1 0 0 0 0 1 Positive
AutG3676ITGA4rs1449263 2 182319301 C A 0 1 0 0 0 0 1 Positive
AutG93986FOXP2rs1456031 - - - - 0 1 0 0 0 0 1 Positive
-rs1467892 1 19354413 T C 0 1 0 0 0 0 1 Negative
AutG5579PRKCBrs1468130 1 23882548 G A 0 1 0 0 0 0 1 Positive

Page Counts: 18/584  
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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