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
AutG57194ATP10Crs1553897 1 26110825 A C 0 1 0 0 0 0 1 Positive
AutG5579PRKCBrs1557671 1 23892145 A A 0 1 0 0 0 0 1 Positive
AutG7337UBE3Ars1557832 1 25603753 C C 0 1 0 0 0 0 1 Negative
AutG4862NPAS2rs1562313 2 101587455 C A 0 1 0 0 0 0 1 Positive
AutG6530SLC6A2rs1566652 1 55731575 G G 0 1 0 0 0 0 1
AutG9262STK17Brs1568368 2 197008529 C C 0 1 0 0 0 0 1 Negative
AutG149111CNIH3rs1603918 - - - - 0 1 0 0 0 0 1 Positive
AutG5290PIK3CArs1607237 3 178950297 C C 0 1 0 0 0 0 1 Negative
AutG8087FXR1rs1607678 3 180584718 C A 0 1 0 0 0 0 1 Positive
AutG1621DBHrs1611115 9 136500515 T C 0 1 0 0 0 0 1 Negative
AutG1621DBHrs1611125 9 136509312 C A 0 1 0 0 0 0 1 Negative
AutG2903GRIN2Ars1650420 1 10268330 T A 0 1 0 0 0 0 1 Negative
AutG1613DAPK3rs1654584 1 3970683 G G 0 1 0 0 0 0 1 Positive
AutG1312COMTrs165774 2 19952561 G A 0 1 0 0 0 0 1 Negative
AutG3930LBRrs16844878 - - - - 0 1 0 0 0 0 1 Negative
AutG1857DVL3rs16858473 3 183867622 C C 0 1 0 0 0 0 1 Negative
AutG8646CHRDrs16858778 3 184102396 C C 0 1 0 0 0 0 1 Negative
AutG8646CHRDrs16858780 3 184103903 A A 0 1 0 0 0 0 1 Negative
AutG3688ITGB1rs16933819 1 33227477 T C 0 1 0 0 0 0 1 Negative
AutG8140SLC7A5rs16943320 1 87870379 A A 0 1 0 0 0 0 1 Positive

Page Counts: 21/584  
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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