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
AutG56884FSTL5 - 4 162697058 C T 0 0 0 0 1 0 1
AutG442117GALNTL6 - 4 173150811 T G 0 0 0 0 1 0 1
AutG51056LAP3 - 4 17606229-232 TGGG - 0 0 0 0 1 0 1
AutG27146FAM184B - 4 17690072 T C 0 0 0 0 1 0 1
AutG7424VEGFC - 4 177650866 C T 0 0 0 0 1 0 1
AutGLINC01098 - 4 179410141 G C 0 0 0 0 1 0 1
AutGLINC01098 - 4 180778575 AAG - 0 0 0 0 1 0 1
AutGLINC00290 - 4 182272486 G A 0 0 0 0 1 0 1
AutG1635DCTD - 4 183882285 T A 0 0 0 0 1 0 1
AutG60684C4orf41 - 4 184601362 A G 0 0 0 0 1 0 1
AutG56977STOX2 - 4 184930698 C A 0 0 0 0 1 0 1
AutG8470SORBS2 - 4 186583330 A G 0 0 0 0 1 0 1
AutG2195FAT1 - 4 187518041 T C 0 0 0 0 1 0 1
AutG2195FAT1 - 4 187549364 G A 0 0 0 0 1 0 1
AutG2195FAT1 - 4 187557908 C T 0 0 0 0 1 0 1
AutG353497POLN - 4 2195009 G A 0 0 0 0 1 0 1
AutG57733GBA3 - 4 22990239 A G 0 0 0 0 1 0 1
AutG10891PPARGC1A - 4 23875950 G A 0 0 0 0 1 0 1
AutGSMIM20 - 4 26208333 - A 0 0 0 0 1 0 1
AutG100422937MIR4275 - 4 30653187 T G 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