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
AutG1768DNAH6 - 2 84846793 A G 0 0 1 0 0 0 1
AutG83439TCF7L1 - 2 85529727 G T 0 0 1 0 0 0 1 Positive
AutG6439SFTPB - 2 85892817 C T 0 0 1 0 0 0 1
AutG55037PTCD3 - 2 86333407 C T 0 0 1 0 0 0 1
AutG55818KDM3A - 2 86678313 A T 0 0 1 0 0 0 1
AutG7844RNF103 - 2 86849967 G A 0 0 1 0 0 0 1
AutG150572SMYD1 - 2 88409886 A G 0 0 1 0 0 0 1 Positive
AutG344167FOXI3 - 2 88751635 C G 0 0 1 0 0 0 1
AutG9451EIF2AK3 - 2 88936111 C A 0 0 1 0 0 0 1
AutG64969MRPS5 - 2 95774145 C T 0 0 1 0 0 0 1 Positive
AutG150696PROM2 - 2 95943281 C A 0 0 1 0 0 0 1
AutG151ADRA2B - 2 96780980 C T 0 0 1 0 0 0 1
AutG9391CIAO1 - 2 96936917 C G 0 0 1 0 0 0 1
AutG23020SNRNP200 - 2 96944354 C T 0 0 1 0 0 0 1 Positive
AutG23020SNRNP200 - 2 96953160 G A 0 0 1 0 0 0 1
AutG23020SNRNP200 - 2 96962741 T C 0 0 1 0 0 0 1 Positive
AutG150771ITPRIPL1 - 2 96992507 C T 0 0 1 0 0 0 1
AutG23397NCAPH - 2 97020087 T G 0 0 1 0 0 0 1
AutG10865ARID5A - 2 97215971 - - 0 0 1 0 0 0 1 Positive
AutG10865ARID5A - 2 97215971 G T 0 0 1 0 0 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