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
AutG23092ARHGAP26 - 5 142548042 TTG - 0 0 0 0 1 0 1
AutG1836SLC26A2 - 5 149360630 C T 0 0 0 0 1 0 1
AutG153201SLC36A2 - 5 150723155 C A 0 0 0 0 1 0 1
AutG2196FAT2 - 5 150947258 - - 0 0 0 0 1 0 1 Positive
AutG25929GEMIN5 - 5 154307070 G C 0 0 0 0 1 0 1
AutG285643KIF4B - 5 155677810 C G 0 0 0 0 1 0 1
AutG23120ATP10B - 5 160042903 G T 0 0 0 0 1 0 1
AutGLOC102546299 - 5 164461711 G A 0 0 0 0 1 0 1
AutGLOC102546299 - 5 164548342 T A 0 0 0 0 1 0 1
AutGCTB-7E3.1 - 5 166554375 G A 0 0 0 0 1 0 1
AutG57451ODZ2 - 5 167474474 A G 0 0 0 0 1 0 1
AutG6586SLIT3 - 5 168180047 C T 0 0 0 0 1 0 1
AutG6586SLIT3 - 5 168250305 C G 0 0 0 0 1 0 1
AutG26262TSPAN17 - 5 176142038 G K 0 0 0 0 1 0 1 Positive
AutG51720UIMC1 - 5 176409574 G A 0 0 0 0 1 0 1
AutG64324NSD1 - 5 176638672 T G 0 0 0 0 1 0 1 Positive
AutG2916GRM6 - 5 178413163 G C 0 0 0 0 1 0 1
AutG153579BTNL9 - 5 180477255 ACC AC 0 0 0 0 1 0 1
AutG133957CCDC127 - 5 205425 T C 0 0 0 0 1 0 1
AutG1016CDH18 - 5 21337171 G C 0 0 0 0 1 0 1

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  (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