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
AutG84128WDR75 - 2 190323576 A T 0 0 1 0 0 0 1
AutG30061SLC40A1 - 2 190428392 A R 0 0 1 0 0 0 1
AutG100131211TMEM194B - 2 191490359 A G 0 0 1 0 0 0 1
AutG4664AB1 - 2 191524448 G A 0 0 1 0 0 0 1
AutG23671TMEFF2 - 2 192818494 A G 0 0 1 0 0 0 1
AutG56171DNAH7 - 2 196729541 C A 0 0 1 0 0 0 1
AutG56171DNAH7 - 2 196891487 T C 0 0 1 0 0 0 1
AutG57520HECW2 - 2 197084846 T C 0 0 1 0 0 0 1 Positive
AutG23451SF3B1 - 2 198274638 A G 0 0 1 0 0 0 1 Positive
AutG23451SF3B1 - 2 198281565 G A 0 0 1 0 0 0 1
AutG5334PLCL1 - 2 198733032 T C 0 0 1 0 0 0 1
AutG5334PLCL1 - 2 198953607 A G 0 0 1 0 0 0 1
AutG57679ALS2 - 2 202569184 G A 0 0 1 0 0 0 1 Positive
AutG51602NOP58 - 2 203162254 C T 0 0 1 0 0 0 1
AutG150864FAM117B - 2 203560677 T C 0 0 1 0 0 0 1
AutG130026ICA1L - 2 203693714 G A 0 0 1 0 0 0 1
AutG65065NBEAL1 - 2 203949293 G T 0 0 1 0 0 0 1
AutG65065NBEAL1 - 2 203972384 A G 0 0 1 0 0 0 1
AutG117583PARD3B - 2 206057982 - C 0 0 1 0 0 0 1
AutG57683ZDBF2 - 2 207171918 T C 0 0 1 0 0 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