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
AutG1813DRD2rs17529477 1 113317067 G A 0 1 0 0 0 0 1 Positive
AutG57194ATP10Ars17637170 1 26017504 C C 0 1 0 0 0 0 1 Negative
AutG2643GCH1rs17738966 1 55302219 G A 0 1 0 0 0 0 1 Positive
AutGDAPPER1rs17832998 1 59112732 C C 0 1 0 0 0 0 1 Positive
AutG121278TPH2rs17840794 1 72388092 C C 0 1 0 0 0 0 1 Positive
AutG2170FABP3rs17848124 1 31845854 T A 0 1 0 0 0 0 1 Negative
AutG10999SLC27A4rs17848330 9 131112779 G A 0 1 0 0 0 0 1 Negative
AutG2918GRM8rs17862331 - - - - 0 1 0 0 0 0 1 Negative
AutG4129MAOBrs1799836 X 43627999 T A 0 1 0 0 0 0 1 Positive
AutG2918GRM8rs1800656 - - - - 0 1 0 0 0 0 1 Negative
AutG4524MTHFRrs1801131 1 11854476 T A 0 1 0 0 0 0 1 Negative
AutG6948TCN2rs1801198 2 31011610 G A 0 1 0 0 0 0 1 Positive
AutG4552MTRRrs1801394 5 7870973 A A 0 1 0 0 0 0 1 Positive
AutG324APCrs1804197 5 112179909 C A 0 1 0 0 0 0 1 Positive
AutG4548MTRrs1805087 - - - - 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs1805474 1 13742150 T G 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs1805510 1 13751252 G G 0 1 0 0 0 0 1 Positive
AutG2904GRIN2Brs1806201 1 13717508 G A 0 1 0 0 0 0 1
AutG2904GRIN2Brs1806202 1 13718561 C A 0 1 0 0 0 0 1
AutG2904GRIN2Brs1806213 1 13723977 T G 0 1 0 0 0 0 1

Page Counts: 91/584  
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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