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
AutG55209SETD5 - 3 9483895 - A 0 0 1 0 0 0 1
AutG55209SETD5 - 3 9517219 G C 0 0 1 0 0 0 1 Positive
AutG55209SETD5 - 3 9517475 T G 0 0 1 0 0 0 1
AutG64419MTMR14 - 3 9730364 C T 0 0 1 0 0 0 1
AutG100526693ARPC4-TTLL3 - 3 9854936 T A 0 0 1 0 0 0 1
AutG26140TTLL3 - 3 9870673 A C 0 0 1 0 0 0 1 Positive
AutG100526693ARPC4-TTLL3 - 3 9870992 C T 0 0 1 0 0 0 1
AutG26140TTLL3 - 3 9871026 C T 0 0 1 0 0 0 1
AutG55831TMEM111 - 3 10028342 C T 0 0 1 0 0 0 1
AutG9797TATDN2 - 3 10301993 G A 0 0 1 0 0 0 1 Positive
AutG9797TATDN2 - 3 10302080 C S 0 0 1 0 0 0 1
AutG491ATP2B2 - 3 10381972 C T 0 0 1 0 0 0 1
AutG491ATP2B2 - 3 10392130 G T 0 0 1 0 0 0 1
AutG6529SLC6A1 - 3 11067142 C A 0 0 1 0 0 0 1
AutG6529SLC6A1 - 3 11067143 - A 0 0 1 0 0 0 1
AutG6529SLC6A1 - 3 11067472 C T 0 0 1 0 0 0 1 Positive
AutG6529SLC6A1 - 3 11068045 G A 0 0 1 0 0 0 1 Positive
AutG6529SLC6A1 - 3 11076337 G A 0 0 1 0 0 0 1 Positive
AutGTAMM41 - 3 11865102 A G 0 0 1 0 0 0 1
AutG5894RAF1 - 3 12628988 GATATCCCCTGGCACC G 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