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
AutG254170FBXO33rs12897470 1 40825840 G A 1 0 0 0 0 0 1 Positive
AutG100131211TMEM194Brs13019278 2 191384924 G A 1 0 0 0 0 0 1 Positive
rs13166776 5 25971356 T C 1 0 0 0 0 0 1 Positive
rs13176113 5 25900440 G A 1 0 0 0 0 0 1 Positive
rs13187934 5 25902368 C C 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs13270725 8 27085587 C C 1 0 0 0 0 0 1 Positive
AutG81551STMN4rs13278976 8 27085479 T C 1 0 0 0 0 0 1 Positive
AutG23026MYO16rs1328244 1 110083898 G C 1 0 0 0 0 0 1 Positive
AutG23026MYO16rs1328250 1 110058631 T C 1 0 0 0 0 0 1 Positive
rs1335639 6 8483819 A A 1 0 0 0 0 0 1 Negative
rs1339359 - - - - 1 0 0 0 0 0 1
AutG5581PRKCErs13404973 2 45997411 G A 1 0 0 0 0 0 1 Negative
AutG5581PRKCErs13405086 2 45997519 G A 1 0 0 0 0 0 1 Negative
AutG6561SLC13A1rs1343905 - - - - 1 0 0 0 0 0 1 Negative
rs1346536 5 25915652 A A 1 0 0 0 0 0 1 Positive
rs1366465 5 25870090 T C 1 0 0 0 0 0 1 Positive
AutGNoners1408744 6 23790115 A A 1 0 0 0 0 0 1 Positive
AutGMACROD2 NCRNA00186rs14135 2 14865156 T A 1 0 0 0 0 0 1 Positive
rs1423435 5 37905088 G C 1 0 0 0 0 0 1 Positive
AutG114880OSBPL6rs1434087 2 179203797 G A 1 0 0 0 0 0 1 Negative

Page Counts: 115/584  
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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