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
AutG7249TSC2 - 16 2100431 C C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2103365 A A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2104360 G A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2104384 G A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2106226 C C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2106706 C C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2107160 T C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2110765 C C/T 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2110765 C T 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2112558 G A 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2112989 G A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2115530 G A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2120487 G A 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2120496 G A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2121536 G A 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2121617 T C 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2121873 G A 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2122297 G C 0 0 0 0 1 0 1
AutG7249TSC2 - 16 2124210 G A/G 0 0 0 0 1 0 1 Positive
AutG7249TSC2 - 16 2129284 G A/G 0 0 0 0 1 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