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
AutG23135KDM6B - 17 7755277 G A 0 0 1 0 0 0 1
AutG1107CHD3 - 17 7803650 C G 0 0 1 0 0 0 1 Positive
AutG1107CHD3 - 17 7811315 T C 0 0 1 0 0 0 1
AutG1107CHD3 - 17 7812028 C Y 0 0 1 0 0 0 1
AutG6844VAMP2 - 17 8065581 C A 0 0 1 0 0 0 1 Positive
AutGCTC1 - 17 8151329 G C 0 0 1 0 0 0 1 Positive
AutG5198PFAS - 17 8166940 A C 0 0 1 0 0 0 1
AutG4628MYH10 - 17 8457299 T Y 0 0 1 0 0 0 1
AutG9423NTN1 - 17 9083262 C A 0 0 1 0 0 0 1 Positive
AutG9423NTN1 - 17 9143210 G A 0 0 1 0 0 0 1
AutG4626MYH8 - 17 10296398 T G 0 0 1 0 0 0 1
AutG4622MYH4 - 17 10355401 T C 0 0 1 0 0 0 1 Positive
AutGADPRM - 17 10614330 A G 0 0 1 0 0 0 1 Positive
AutG1770DNAH9 - 17 11806196 C T 0 0 1 0 0 0 1
AutG6416MAP2K4 - 17 11924221 G A 0 0 1 0 0 0 1
AutG6416MAP2K4 - 17 11924226 G A 0 0 1 0 0 0 1
AutG6416MAP2K4 - 17 11924235 G A 0 0 1 0 0 0 1
AutG93649MYOCD - 17 12656157 G T 0 0 1 0 0 0 1 Positive
AutG9912ARHGAP44 - 17 12852467 A T 0 0 1 0 0 0 1
AutG9912ARHGAP44 - 17 12887971 C A 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