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
AutG54806AHI1rs4896141 - - - - 0 1 0 0 0 0 1 Positive
AutG2562GABRB3rs4906683 1 26854621 G A 0 1 0 0 0 0 1 Positive
AutG57194ATP10Crs4906753 1 25968061 G A 0 1 0 0 0 0 1 Positive
AutG57194ATP10Crs4906754 1 25968140 G A 0 1 0 0 0 0 1 Negative
AutG57194ATP10Crs4906762 1 25986565 C C 0 1 0 0 0 0 1 Negative
AutG57194ATP10Crs4906795 1 26104006 A A 0 1 0 0 0 0 1 Negative
AutG8863PER3rs4908699 1 7905274 G A 0 1 0 0 0 0 1 Negative
AutG8646CHRDrs4912507 3 184109236 T A 0 1 0 0 0 0 1 Negative
AutG627BDNFrs4923461 1 27656910 A A 0 1 0 0 0 0 1 Negative
AutG627BDNFrs4923463 1 27672500 A A 0 1 0 0 0 0 1 Negative
AutG64221ROBO3rs4936957 1 124739988 T C 0 1 0 0 0 0 1 Positive
AutG3628INPP1rs4940 2 191231503 G A 0 1 0 0 0 0 1 Positive
AutG1644DDCrs4947644 - - - - 0 1 0 0 0 0 1 Negative
AutG8087FXR1rs496250 3 180627303 G C 0 1 0 0 0 0 1 Positive
AutG57478USP31rs4967976 1 23156362 C A 0 1 0 0 0 0 1 Negative
AutG23062GGA2rs4968008 1 23490353 T A 0 1 0 0 0 0 1 Negative
AutG9021SOCS3rs4969168 1 76353793 A A 0 1 0 0 0 0 1 Positive
AutG25979DHRS7Brs4985853 1 21301440 T C 0 1 0 0 0 0 1 Positive
AutG91949COG7rs499812 1 23410419 T A 0 1 0 0 0 0 1 Negative
AutG127602DNAH14rs5015446 - - - - 0 1 0 0 0 0 1 Negative

Page Counts: 59/584  
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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