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
AutG139411PTCHD1rs6629615 X 23389164 G G 0 1 0 0 0 0 1 Negative
AutG129684CNTNAP5rs6721614 2 125424553 A A 0 1 0 0 0 0 1 Positive
AutG27255CNTN6rs6797539 3 1147201 A A 0 1 0 0 0 0 1 Positive
AutG4897NRCAMrs6958498 - - - - 0 1 0 0 0 0 1 Positive
AutG2571GAD1rs701492 2 171702480 C C 0 1 0 0 0 0 1 Negative
AutG57502NLGN4Xrs7049300 X 5821786 G A 0 1 0 0 0 0 1
AutG6638SNRPNrs705 1 25219512 T C 0 1 0 0 0 0 1 Positive
AutG54413NLGN3rs7051693 X 70384267 C C 0 1 0 0 0 0 1
AutG139411PTCHD1rs7051796 X 23353683 C C 0 1 0 0 0 0 1 Positive
AutG139411PTCHD1rs7052177 X 23374882 T G 0 1 0 0 0 0 1 Positive
AutG4885NPTX2rs705315 - - - - 0 1 0 0 0 0 1 Negative
AutG4885NPTX2rs705318 - - - - 0 1 0 0 0 0 1 Negative
AutG139411PTCHD1rs7064366 X 23366722 G A 0 1 0 0 0 0 1 Negative
AutGDMT1rs706804 - - - - 0 1 0 0 0 0 1 Positive
AutG2918GRM8rs712723 - - - - 0 1 0 0 0 0 1 Negative
AutG6263RYR3rs713202 1 34147172 C A 0 1 0 0 0 0 1 Negative
AutG6638SNRPNrs7164989 1 25097227 A A 0 1 0 0 0 0 1 Positive
AutG6638SNRPNrs7166784 1 25064565 A A 0 1 0 0 0 0 1 Positive
AutG5191PEX7rs717088 - - - - 0 1 0 0 0 0 1 Positive
AutG7082TJP1rs7173960 1 30301235 T C 0 1 0 0 0 0 1 Negative

Page Counts: 105/584  
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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