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
AutG1387CREBBPrs130025 1 3832959 C A 0 1 0 0 0 0 1 Positive
AutG3351HTR1Brs130058 6 78173281 T A 0 1 0 0 0 0 1 Negative
AutG3351HTR1Brs130075 6 31122502 C A 0 1 0 0 0 0 1 Negative
AutG4862NPAS2rs13017718 2 101554036 C C 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs13073878 3 178502482 A A 0 1 0 0 0 0 1 Positive
AutG59345GNB4rs13074744 3 179180132 A A 0 1 0 0 0 0 1 Positive
AutG10242KCNMB2rs13081186 3 178570393 T A 0 1 0 0 0 0 1 Positive
AutG5290PIK3CArs13082485 3 178908580 G A 0 1 0 0 0 0 1 Negative
AutG8646CHRDrs13084750 3 184094724 T C 0 1 0 0 0 0 1 Negative
AutG59345GNB4rs13087067 3 179122008 C C 0 1 0 0 0 0 1 Positive
AutG8646CHRDrs13098678 3 184121187 C A 0 1 0 0 0 0 1 Negative
AutG1977EIF4Ers13109000 4 99815531 T C 0 1 0 0 0 0 1
AutG4543MTNR1Ars13113549 4 187465991 A A 0 1 0 0 0 0 1 Negative
AutG952CD38rs13137313 4 15851968 G A 0 1 0 0 0 0 1 Negative
AutG9555H2AFYrs13163460 - - - - 0 1 0 0 0 0 1 Positive
AutG3142HLXrs1317189 - - - - 0 1 0 0 0 0 1 Negative
AutG2559GABRA6rs13172914 - - - - 0 1 0 0 0 0 1 Negative
-rs1317646 - - - - 0 1 0 0 0 0 1 Negative
AutG3720JARID2rs13193457 6 15346005 C A 0 1 0 0 0 0 1 Positive
AutG8476CDC42BPArs1320490 - - - - 0 1 0 0 0 0 1 Negative

Page Counts: 15/584  
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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