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
AutG3708ITPR1 - 3 4776967 A A/T 0 0 0 0 1 0 1 Positive
AutG6599SMARCC1 - 3 47777540 A G 0 0 0 0 1 0 1
AutG3708ITPR1 - 3 4808230 G C/G 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4810254 G A/G 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4836846 C C/G 0 0 0 0 1 0 1 Positive
AutG3708ITPR1 - 3 4836866 G A/G 0 0 0 0 1 0 1 Positive
AutG339834CCDC36 - 3 49274079 C G 0 0 0 0 1 0 1
AutG7318UBA7 - 3 49847695 G A 0 0 0 0 1 0 1
AutG3373HYAL1 - 3 50340219 G A 0 0 0 0 1 0 1
AutG2912GRM2 - 3 51747288 G A 0 0 0 0 1 0 1
AutG25864ABHD14A - 3 52011912 G A 0 0 0 0 1 0 1
AutG25864ABHD14A - 3 52014897 C G 0 0 0 0 1 0 1
AutG25981DNAH1 - 3 52425336 C G 0 0 0 0 1 0 1
AutG91869RFT1 - 3 53156434 C A 0 0 0 0 1 0 1
AutG55540IL17RB - 3 53889368 G A 0 0 0 0 1 0 1
AutG353324SPATA12 - 3 57108101 C T 0 0 0 0 1 0 1
AutG2317FLNB - 3 58134022 G T 0 0 0 0 1 0 1
AutG101927215LINC01266 - 3 582123 T A 0 0 0 0 1 0 1
AutG2272FHIT - 3 59577900 C T 0 0 0 0 1 0 1
AutG2272FHIT - 3 59577904 TTTT - 0 0 0 0 1 0 1

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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