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
rs10072518 5 26064803 C C 1 0 0 0 0 0 1 Positive
AutGFAM130A2rs1020626 2 166398634 A A 1 0 0 0 0 0 1 Positive
AutG83943IMMP2Lrs10500002 - - - - 1 0 0 0 0 0 1 Positive
AutG11103KRR1rs1051446 1 75894114 T C 1 0 0 0 0 0 1 Positive
AutG79741C10orf68rs10763893 1 33011229 G A 1 0 0 0 0 0 1 Positive
AutG92558CCDC64rs10774538 1 120403797 C C 1 0 0 0 0 0 1 Positive
AutG26245OR2M4rs10888329 - - - - 1 0 0 0 0 0 1 Positive
AutGFAM130A2rs10930170 2 166399467 G A 1 0 0 0 0 0 1 Positive
rs10942147 5 25910929 G A 1 0 0 0 0 0 1 Positive
rs10966205 9 24095607 T A 1 0 0 0 0 0 1 Positive
rs11030597 1 29190528 A A 1 0 0 0 0 0 1 Positive
rs11030606 1 29214412 C C 1 0 0 0 0 0 1 Positive
AutG127062OR2M3rs11204613 - - - - 1 0 0 0 0 0 1 Positive
AutGZNF533rs1139 2 180610081 C A 1 0 0 0 0 0 1 Positive
rs11739167 5 25909764 C C 1 0 0 0 0 0 1 Positive
rs11740209 5 25840136 C C 1 0 0 0 0 0 1 Positive
AutG23105FSTL4rs11741756 - - - - 1 0 0 0 0 0 1 Positive
AutG26261FBXO24rs11768465 - - - - 1 0 0 0 0 0 1 Positive
AutG5613PRKXrs11798405 X 4930801 A A 1 0 0 0 0 0 1 Positive
AutGZNF533rs11885327 2 180568073 C C 1 0 0 0 0 0 1 Positive

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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