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
AutG11069RAPGEF4 - 2 173787028 C T 0 0 0 1 0 0 1
AutG7273TTN - 2 179396737 C T 0 0 0 1 0 0 1
AutG7273TTN - 2 179605302 G T 0 0 0 1 0 0 1
- 2 191302072 C T 0 0 0 1 0 0 1
AutG6772STAT1 - 2 191850362 C T 0 0 0 1 0 0 1 Positive
AutG316AOX1 - 2 201464413 C T 0 0 0 1 0 0 1 Positive
AutG285175UNC80 - 2 210745771 C T 0 0 0 1 0 0 1
AutG2335FN1 - 2 216235029 C G 0 0 0 1 0 0 1
AutG29926GMPPA - 2 220367114 C T 0 0 0 1 0 0 1 Positive
AutG116255MOGAT1 - 2 223554125 T C 0 0 0 1 0 0 1
AutG7857SCG2 - 2 224463202 C A 0 0 0 1 0 0 1 Positive
AutG1285COL4A3 - 2 228120751 G A 0 0 0 1 0 0 1 Positive
AutG11262SP140 - 2 231103053 G T 0 0 0 1 0 0 1
AutG129563DIS3L2 - 2 233103250 C A 0 0 0 1 0 0 1
AutG1146CHRNG - 2 233409575 T C 0 0 0 1 0 0 1 Positive
AutG150681OR6B3 - 2 240985283 T C 0 0 0 1 0 0 1
AutG547KIF1A - 2 241724471 C T 0 0 0 1 0 0 1
AutG728294D2HGDH - 2 242684178 A G 0 0 0 1 0 0 1 Positive
AutG56265CPXM1 - 20 2775947 G A 0 0 0 1 0 0 1
AutG65992DDRGK1 - 20 3181055 G A 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