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
AutG64101LRRC4 - 7 127670456 G C 0 0 2 0 0 0 2 Positive
AutG136332LRGUK - 7 133842813 A G 0 0 2 0 0 0 2
AutG10061ABCF2 - 7 150915221 C A 0 0 2 0 0 0 2
AutG9690UBE3C - 7 157041114 C Y 0 0 2 0 0 0 2
AutG9172MYOM2 - 8 2027642 C T 0 0 2 0 0 0 2
AutG79648MCPH1 - 8 6500546 T A 0 0 2 0 0 0 2
AutG94137RP1L1 - 8 10468390 C T 0 0 2 0 0 0 2
AutG83595SOX7 - 8 10583692 C T 0 0 2 0 0 0 2
AutG57805KIAA1967 - 8 22476678 G A 0 0 2 0 0 0 2
AutG4173MCM4 - 8 48883927 G A 0 0 2 0 0 0 2
AutG54212SNTG1 - 8 51705253 T A 0 0 2 0 0 0 2
AutG25879DCAF13 - 8 104439424 T G 0 0 2 0 0 0 2
AutG23513SCRIB - 8 144891120 G A 0 0 2 0 0 0 2
AutG5339PLEC - 8 144995364 G A 0 0 2 0 0 0 2
AutG2731GLDC - 9 6534708 G A 0 0 2 0 0 0 2
AutG8777MPDZ - 9 13247770 C T 0 0 2 0 0 0 2 Positive
AutG10210TOPORS - 9 32542613 G A 0 0 2 0 0 0 2
AutG65083NOL6 - 9 33468867 G A 0 0 2 0 0 0 2
AutG7415VCP - 9 35057454 C T 0 0 2 0 0 0 2 Positive
AutG301ANXA1 - 9 75777757 G A 0 0 2 0 0 0 2 Positive

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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