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
AutG1106CHD2 - 15 93552420 G A 0 0 1 0 0 0 1 Positive
AutG1106CHD2 - 15 93563244 C T 0 0 1 0 0 0 1
AutG1106CHD2 - 15 93563256 C T 0 0 1 0 0 0 1
AutG1106CHD2 - 15 93563282 T TG 0 0 1 0 0 0 1
AutG1106CHD2 - 15 93563389 G A/G 0 0 1 0 0 0 1 Positive
AutG56963RGMA - 15 93588446 C Y 0 0 1 0 0 0 1
AutG55784MCTP2 - 15 95135360 T C 0 0 1 0 0 0 1
AutG145820LOC145820 - 15 96219835 A G 0 0 1 0 0 0 1
AutG7026NR2F2 - 15 97278616 C G 0 0 1 0 0 0 1
AutG23336SYNM - 15 99670801 G A 0 0 1 0 0 0 1
AutG4205MEF2A - 15 100197931 A T 0 0 1 0 0 0 1
AutG145748LYSMD4 - 15 100271431 G C 0 0 1 0 0 0 1
AutG145748LYSMD4 - 15 100272044 T C 0 0 1 0 0 0 1
AutG170691ADAMTS17 - 15 100636667 G A 0 0 1 0 0 0 1
AutG220ALDH1A3 - 15 101454953 T C 0 0 1 0 0 0 1 Positive
AutG79705LRRK1 - 15 101567898 G A 0 0 1 0 0 0 1 Positive
AutG79705LRRK1 - 15 101569435 C Y 0 0 1 0 0 0 1
AutG4350MPG - 16 129450 G A 0 0 1 0 0 0 1
AutG64714PDIA2 - 16 334569 C T 0 0 1 0 0 0 1 Positive
AutG58986TMEM8A - 16 426580 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