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
AutG23197FAF2 - 5 175933795 G R 0 0 1 0 0 0 1
AutG114787GPRIN1 - 5 176026121 TCAAAGACCCAGGA T 0 0 1 0 0 0 1
AutG26262TSPAN17 - 5 176078840 C M 0 0 1 0 0 0 1
AutG51720UIMC1 - 5 176334136 G C 0 0 1 0 0 0 1
AutG51720UIMC1 - 5 176334157 - A 0 0 1 0 0 0 1
AutG51720UIMC1 - 5 176409516 C Y 0 0 1 0 0 0 1
AutG2264FGFR4 - 5 176520523 C T 0 0 1 0 0 0 1
AutG64324NSD1 - 5 176636717 C T 0 0 1 0 0 0 1
AutG64324NSD1 - 5 176684041 T C 0 0 1 0 0 0 1 Positive
AutG6569SLC34A1 - 5 176813540 A G 0 0 1 0 0 0 1 Positive
AutG79930DOK3 - 5 176931344 C T 0 0 1 0 0 0 1
AutG117608ZNF354B - 5 178310041 G A 0 0 1 0 0 0 1
AutG117608ZNF354B - 5 178310216 T C 0 0 1 0 0 0 1
AutG80108ZFP2 - 5 178359410 C T 0 0 1 0 0 0 1
AutG80230RUFY1 - 5 179023604 G A 0 0 1 0 0 0 1
AutG821CANX - 5 179122573 - - 0 0 1 0 0 0 1
AutG11282MGAT4B - 5 179225962 G A 0 0 1 0 0 0 1 Positive
AutG5601MAPK9 - 5 179675991 ACCC ACC 0 0 1 0 0 0 1
AutG9945GFPT2 - 5 179763552 G A 0 0 1 0 0 0 1
AutG153579BTNL9 - 5 180485372 T A 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