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
AutG56886UGGT1 - 2 128917217 TTCA T 0 0 1 0 0 0 1
AutG56886UGGT1 - 2 128938561 G R 0 0 1 0 0 0 1
AutG55627SMPD4 - 2 130912761 C T 0 0 1 0 0 0 1
AutG130074FAM168B - 2 131810589 C G 0 0 1 0 0 0 1
AutG113457TUBA3D - 2 132238286 C T 0 0 1 0 0 0 1
AutG344148NCKAP5 - 2 133976129 A C 0 0 1 0 0 0 1
AutG905CCNT2 - 2 135676549 A G 0 0 1 0 0 0 1
AutG905CCNT2 - 2 135710843 A AAT 0 0 1 0 0 0 1
AutG84083ZRANB3 - 2 135982012 A G 0 0 1 0 0 0 1
AutG84083ZRANB3 - 2 136072939 G A 0 0 1 0 0 0 1
AutG4175MCM6 - 2 136626351 G A 0 0 1 0 0 0 1 Positive
AutG7852CXCR4 - 2 137490484 T C 0 0 1 0 0 0 1
AutG80731THSD7B - 2 138375981 G A 0 0 1 0 0 0 1
AutG3176HNMT - 2 139007683 A C 0 0 1 0 0 0 1
AutG53353LRP1B - 2 141609318 - - 0 0 1 0 0 0 1
AutG8942KYNU - 2 143798227 G T 0 0 1 0 0 0 1
AutG55843ARHGAP15 - 2 144008169 - - 0 0 1 0 0 0 1
AutG55843ARHGAP15 - 2 144545125 T C 0 0 1 0 0 0 1
AutG55777MBD5 - 2 149051133 - - 0 0 1 0 0 0 1
AutG55777MBD5 - 2 149225965 * 2D, -TC 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