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
AutG89846FGD3 - 9 95782633 A G 0 0 1 0 0 0 1
AutG65268WNK2 - 9 96069086 - - 0 0 1 0 0 0 1
AutG138639PTPDC1 - 9 96860735 T C 0 0 1 0 0 0 1
AutG8789FBP2 - 9 97333814 G A 0 0 1 0 0 0 1 Positive
AutG84909C9orf3 - 9 97563096 C T 0 0 1 0 0 0 1
AutG84909C9orf3 - 9 97718193 ACTTCCTTC ACTTC 0 0 1 0 0 0 1
AutG5727PTCH1 - 9 98221922 G A 0 0 1 0 0 0 1
AutG5727PTCH1 - 9 98239927 C T 0 0 1 0 0 0 1 Positive
AutGERCC6L2 - 9 98654049 C T 0 0 1 0 0 0 1
AutG11046SLC35D2 - 9 99086455 T C 0 0 1 0 0 0 1
AutG340508LOC340508 - 9 99861824 A G 0 0 1 0 0 0 1
AutG340508LOC340508 - 9 99862319 A T 0 0 1 0 0 0 1
AutG51531C9orf156 - 9 100672811 G A 0 0 1 0 0 0 1
AutG10541ANP32B - 9 100794002 C T 0 0 1 0 0 0 1
AutG9568GABBR2 - 9 101133817 C T 0 0 1 0 0 0 1 Positive
AutG203286ANKS6 - 9 101556844 G A 0 0 1 0 0 0 1
AutG1306COL15A1 - 9 101832099 A G 0 0 1 0 0 0 1
AutG54881TEX10 - 9 103066077 C T 0 0 1 0 0 0 1 Positive
AutG91283C9orf30 - 9 103213020 A R 0 0 1 0 0 0 1
AutG56254RNF20 - 9 104297835 G 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