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
AutG7709ZBTB17 - 1 16269685 C T 0 0 0 1 0 0 1
AutG128272ARHGEF19 - 1 16525147 G C 0 0 0 1 0 0 1 Positive
AutG57576KIF17 - 1 21031010 G A 0 0 0 1 0 0 1
AutG7798LUZP1 - 1 23419554 G A 0 0 0 1 0 0 1
AutG1269CNR2 - 1 24201929 G T 0 0 0 1 0 0 1 Positive
AutG3925STMN1 - 1 26228141 A G 0 0 0 1 0 0 1
AutG6548SLC9A1 - 1 27440652 C T 0 0 0 1 0 0 1
AutG5511PPP1R8 - 1 28169828 G A 0 0 0 1 0 0 1
AutG576ADGRB2 - 1 32206984 A T 0 0 0 1 0 0 1 Positive
AutG90853SPOCD1 - 1 32280023 G A 0 0 0 1 0 0 1
AutG3065HDAC1 - 1 32790137 C T 0 0 0 1 0 0 1 Positive
AutG3208HPCA - 1 33354602 C T 0 0 0 1 0 0 1
AutG7802DNALI1 - 1 38023331 A G 0 0 0 1 0 0 1 Positive
AutG23499MACF1 - 1 39784265 C T 0 0 0 1 0 0 1 Positive
AutG23499MACF1 - 1 39903616 G A 0 0 0 1 0 0 1
AutG59269HIVEP3 - 1 42046980 G A 0 0 0 1 0 0 1
AutG8438RAD54L - 1 46726433 G A 0 0 0 1 0 0 1
AutG51253MRPL37 - 1 54670919 G A 0 0 0 1 0 0 1
AutG55277FGGY - 1 60106970 T G 0 0 0 1 0 0 1
AutG23032USP33 - 1 78163012 C T 0 0 0 1 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