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
AutG222183SRRM3 - 7 75894088 G A 0 0 1 0 0 0 1
AutG7532YWHAG - 7 75959490 T G 0 0 1 0 0 0 1 Positive
AutG100133091LOC100133091 - 7 76468893 C A 0 0 1 0 0 0 1
AutG54103PION - 7 76950113 T A 0 0 1 0 0 0 1
AutG54103PION - 7 77006604 T K 0 0 1 0 0 0 1
AutG5782PTPN12 - 7 77265144 G A 0 0 1 0 0 0 1
AutG2770GNAI1 - 7 79840305 A G 0 0 1 0 0 0 1 Positive
AutG2770GNAI1 - 7 79846700 T C 0 0 1 0 0 0 1 Positive
AutG3082HGF - 7 81336665 G T 0 0 1 0 0 0 1
AutG27445PCLO - 7 82544191 T C 0 0 1 0 0 0 1 Positive
AutG27445PCLO - 7 82584377 C T 0 0 1 0 0 0 1
AutG223117SEMA3D - 7 85220655 T C 0 0 1 0 0 0 1
AutG223117SEMA3D - 7 85480321 T A 0 0 1 0 0 0 1
AutG54677CROT - 7 86988627 A AG 0 0 1 0 0 0 1
AutG5243ABCB1 - 7 87145975 A G 0 0 1 0 0 0 1
AutG154661RUNDC3B - 7 87339897 G A 0 0 1 0 0 0 1
AutG219578ZNF804B - 7 88963885 A T 0 0 1 0 0 0 1
AutG5218CDK14 - 7 90355990 G A 0 0 1 0 0 0 1 Positive
AutG8321FZD1 - 7 91383874 A G 0 0 1 0 0 0 1
AutG7978MTERF - 7 91503940 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