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
AutG4854NOTCH3 - 19 15276256 G A 0 0 1 0 0 0 1 Positive
AutG4854NOTCH3 - 19 15290235 C S 0 0 1 0 0 0 1
AutG4854NOTCH3 - 19 15290891 T C 0 0 1 0 0 0 1
AutG23476BRD4 - 19 15353791 G A 0 0 1 0 0 0 1
AutG23476BRD4 - 19 15375549 T C 0 0 1 0 0 0 1 Positive
AutG58525WIZ - 19 15536443 C T 0 0 1 0 0 0 1
AutG4051CYP4F3 - 19 15763419 C T 0 0 1 0 0 0 1 Positive
AutG66002CYP4F12 - 19 15791068 A C 0 0 1 0 0 0 1
AutG66002CYP4F12 - 19 15794447 T C 0 0 1 0 0 0 1
AutG57834CYP4F11 - 19 16045146 C G 0 0 1 0 0 0 1
AutG10523CHERP - 19 16630447 T C 0 0 1 0 0 0 1 Positive
AutG10523CHERP - 19 16643425 C G 0 0 1 0 0 0 1 Positive
AutG9441MED26 - 19 16687978 G T 0 0 1 0 0 0 1
AutG23309SIN3B - 19 16973723 C T 0 0 1 0 0 0 1
AutG27151CPAMD8 - 19 17104231 G T 0 0 1 0 0 0 1
AutG4650MYO9B - 19 17306176 C T 0 0 1 0 0 0 1 Positive
AutG4650MYO9B - 19 17311567 C CG 0 0 1 0 0 0 1
AutG83483PLVAP - 19 17463179 T G 0 0 1 0 0 0 1
AutG23025UNC13A - 19 17743591 G T 0 0 1 0 0 0 1
AutG10331B3GNT3 - 19 17918722 G T 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