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
AutG5089PBX2 - 6 32155879 T A 0 0 1 0 0 0 1 Positive
AutG4855NOTCH4 - 6 32168932 C T 0 0 1 0 0 0 1
AutG3117HLA-DQA1 - 6 32609173 C G 0 0 1 0 0 0 1
AutG3108HLA-DMA - 6 32916657 A C 0 0 1 0 0 0 1
AutG6046BRD2 - 6 32942326 G T 0 0 1 0 0 0 1
AutG3115HLA-DPB1 - 6 33053592 C T 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33391326 G A 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33399974 CA C 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33400477 C T 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33403326 G A 0 0 1 0 0 0 1 Positive
AutG8831SYNGAP1 - 6 33405522 C C/G 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33405763 C T 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33406690 - A 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33406694 CTGGT - 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33408570 C T 0 0 1 0 0 0 1 Positive
AutG8831SYNGAP1 - 6 33408650 CTT C 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33409439 C T 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33411228 C T 0 0 1 0 0 0 1
AutG8831SYNGAP1 - 6 33414451 GAACA G 0 0 1 0 0 0 1
AutG2914GRM4 - 6 34043638 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