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
AutG51454GULP1rs1354905 2 189446471 G A 0 1 0 0 0 0 1 Negative
AutG10203CALCRLrs1355519 2 188308604 T A 0 1 0 0 0 0 1 Negative
AutG5290PIK3CArs1356413 3 178943901 C C 0 1 0 0 0 0 1 Negative
AutG9732KIAA0716rs1362155 - - - - 0 1 0 0 0 0 1 Negative
AutG2562GABRB3rs1367959 1 26917158 C C 0 1 0 0 0 0 1 Positive
AutG57194ATP10Crs1373560 1 26089637 T A 0 1 0 0 0 0 1 Positive
AutG3231HOXD1rs1374326 2 177058316 G C 0 1 0 0 0 0 1 Positive
AutG8631SKAP1rs1377201 1 46312128 T A 0 1 0 0 0 0 1 Positive
AutG5021OXTRrs137911 2 50487567 T C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs1382042 3 178324570 G C 0 1 0 0 0 0 1 Positive
AutG2567GABRG3rs1382056 1 27835646 A A 0 1 0 0 0 0 1 Negative
AutG2567GABRG3rs1382061 1 27756585 G C 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs1386486 1 72412220 A C 0 1 0 0 0 0 1 Negative
AutG121278TPH2rs1386495 1 72352322 G C 0 1 0 0 0 0 1 Negative
AutG64853AIDArs1391558 - - - - 0 1 0 0 0 0 1 Negative
AutG9555H2AFYrs1393082 - - - - 0 1 0 0 0 0 1 Positive
AutG54715A2BP1rs1395579 1 7587734 G A 0 1 0 0 0 0 1 Negative
AutG54715A2BP1rs1395585 1 7594958 G A 0 1 0 0 0 0 1 Negative
AutG6772STAT1rs1400657 2 191833540 G A 0 1 0 0 0 0 1 Negative
AutG1408CRY2rs1401417 1 45880110 C C 0 1 0 0 0 0 1 Negative

Page Counts: 17/584  
17 First  Previous  16  17  18  Next  Last

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