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
AutG10716TBR1 - 2 162275481 A AC 0 0 1 0 0 0 1
AutG10716TBR1 - 2 162276743 A G 0 0 1 0 0 0 1 Positive
AutG10716TBR1 - 2 162565076 - - 0 0 1 0 0 0 1
AutG10716TBR1 - 2 162565357 A - 0 0 1 0 0 0 1
AutG10716TBR1 - 2 162567235 - - 0 0 1 0 0 0 1
AutG1803DPP4 - 2 162865169 T Y 0 0 1 0 0 0 1
AutG1803DPP4 - 2 162891779 T TA 0 0 1 0 0 0 1
AutG90134KCNH7 - 2 163241305 A C 0 0 1 0 0 0 1
AutG90134KCNH7 - 2 163302876 G C 0 0 1 0 0 0 1 Positive
AutG6328SCN3A - 2 165950891 C T 0 0 1 0 0 0 1 Positive
AutG6326SCN2A - 2 166152367 G A 0 0 1 0 0 0 1 Positive
AutG6326SCN2A - 2 166152561 G GC 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166152578 A G 0 0 1 0 0 0 1 Positive
AutG6326SCN2A - 2 166164448 - A 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166164448 G A 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166165305 G A 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166166923 C T 0 0 1 0 0 0 1 Positive
AutG6326SCN2A - 2 166167003 A A/G 0 0 1 0 0 0 1
AutG6326SCN2A - 2 166170189 C C/T 0 0 1 0 0 0 1 Positive
- 2 166170189 C 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