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
AutG158800RHOXF1rs6646569 X 119241774 C C 1 0 0 0 0 0 1 Positive
AutG6262RYR2rs6683048 - - - - 1 0 0 0 0 0 1 Positive
AutG54842MFSD6rs6707773 2 191344132 C C 1 0 0 0 0 0 1 Positive
AutG151531UPP2rs6709528 2 158970425 C C 1 0 0 0 0 0 1 Negative
rs6732653 2 60863833 G A 1 0 0 0 0 0 1 Positive
AutG92737DNERrs6752370 2 230518233 A A 1 0 0 0 0 0 1 Positive
AutGFLJ20160rs6757698 2 191363496 T C 1 0 0 0 0 0 1 Negative
AutGNoners6879627 5 2109901 T C 1 0 0 0 0 0 1 Positive
rs6891206 5 25969379 T C 1 0 0 0 0 0 1 Positive
AutG1501CTNND2rs6891903 5 11371305 A A 1 0 0 0 0 0 1 Positive
rs6894102 5 25897556 T C 1 0 0 0 0 0 1 Positive
AutG22999RIMS1rs6907646 6 72680017 G A 1 0 0 0 0 0 1 Positive
rs6951925 - - - - 1 0 0 0 0 0 1 Positive
AutG1129CHRM2rs6967953 - - - - 1 0 0 0 0 0 1 Positive
rs6991229 8 64185560 T C 1 0 0 0 0 0 1 Positive
rs7068603 1 80772541 C C 1 0 0 0 0 0 1 Negative
AutG5091PCrs7122539 1 66662731 G A 1 0 0 0 0 0 1 Positive
rs7125479 1 108485402 A A 1 0 0 0 0 0 1 Negative
AutG254170FBXO33rs7147817 1 40832004 A A 1 0 0 0 0 0 1 Positive
AutG79091C16orf68rs7206043 1 8472953 A A 1 0 0 0 0 0 1 Positive

Page Counts: 123/584  
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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