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
AutG775CACNA1C - 12 2717804 G C 0 0 0 1 0 0 1 Positive
AutG7450VWF - 12 6094774 C T 0 0 0 1 0 0 1 Positive
AutG7450VWF - 12 6122757 C T 0 0 0 1 0 0 1
AutG1108CHD4 - 12 6710567 C T 0 0 0 1 0 0 1
AutG359787DPPA3 - 12 7864175 A C 0 0 0 1 0 0 1
AutG144195SLC2A14 - 12 7970433 A G 0 0 0 1 0 0 1
AutG5858PZP - 12 9345317 T C 0 0 0 1 0 0 1
AutG64581CLEC7A - 12 10280034 G A 0 0 0 1 0 0 1
AutG653247PRB2 - 12 11546454 T C 0 0 0 1 0 0 1
AutG54477PLEKHA5 - 12 19522658 G A 0 0 0 1 0 0 1
AutG121536AEBP2 - 12 19592980 G T 0 0 0 1 0 0 1
AutG53919SLCO1C1 - 12 20890190 G T 0 0 0 1 0 0 1
AutG338821SLCO1B7 - 12 21200105 G A 0 0 0 1 0 0 1
AutG1272CNTN1 - 12 41410611 A T 0 0 0 1 0 0 1 Positive
AutG80070ADAMTS20 - 12 43770053 C A 0 0 0 1 0 0 1
AutG8085KMT2D - 12 49415648 T C 0 0 0 1 0 0 1 Positive
- 12 49937116 C T 0 0 0 1 0 0 1
AutG41ASIC1 - 12 50471866 G A 0 0 0 1 0 0 1 Positive
AutG3889KRT83 - 12 52710275 C T 0 0 0 1 0 0 1
AutG3071NCKAP1L - 12 54929978 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