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
AutG5099PCDH7 - 4 30724309 G A 0 0 1 0 0 0 1 Positive
AutG5099PCDH7 - 4 31353929 C T 0 0 1 0 0 0 1
AutG401124DTHD1 - 4 37087452 A C 0 0 1 0 0 0 1
AutG23216TBC1D1 - 4 37901375 A G 0 0 1 0 0 0 1
AutG23216TBC1D1 - 4 38117541 G A 0 0 1 0 0 0 1 Positive
AutG152831KLB - 4 39436024 T C 0 0 1 0 0 0 1
AutG7358UGDH - 4 39506998 A G 0 0 1 0 0 0 1
AutG3093UBE2K - 4 39699887 CGGTGGCGGTGGTCGTAGCGGTGGCGGA C 0 0 1 0 0 0 1
AutG79730NSUN7 - 4 40762471 A C 0 0 1 0 0 0 1
AutG7345UCHL1 - 4 41259002 C G 0 0 1 0 0 0 1
AutG22998LIMCH1 - 4 41646619 G A 0 0 1 0 0 0 1
AutG22998LIMCH1 - 4 41646620 G A 0 0 1 0 0 0 1
AutG285429DCAF4L1 - 4 41984085 C T 0 0 1 0 0 0 1
AutG10396ATP8A1 - 4 42583745 C T 0 0 1 0 0 0 1
AutG389207GRXCR1 - 4 43343680 G C 0 0 1 0 0 0 1
AutG389207GRXCR1 - 4 43685706 G T 0 0 1 0 0 0 1
AutG132789GNPDA2 - 4 44709892 T C 0 0 1 0 0 0 1
AutG132789GNPDA2 - 4 44863703 G A 0 0 1 0 0 0 1
AutG2555GABRA2 - 4 46258318 A T 0 0 1 0 0 0 1 Positive
AutG2555GABRA2 - 4 46307662 G A 0 0 1 0 0 0 1 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