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
AutG29066ZC3H7A - 16 11876164 T A 0 0 0 1 0 0 1
AutG57496MKL2 - 16 14342897 T C 0 0 0 1 0 0 1 Positive
AutG23042PDXDC1 - 16 15100370 A G 0 0 0 1 0 0 1
AutG4629MYH11 - 16 15835377 C T 0 0 0 1 0 0 1
AutG4363ABCC1 - 16 16230394 G A 0 0 0 1 0 0 1
AutG408050NOMO3 - 16 16367883 T A 0 0 0 1 0 0 1
AutG2975GTF3C1 - 16 27483259 G A 0 0 0 1 0 0 1
AutG10847SRCAP - 16 30740318 G A 0 0 0 1 0 0 1
AutG9810RNF40 - 16 30774543 G A 0 0 0 1 0 0 1
AutG9810RNF40 - 16 30776827 G T 0 0 0 1 0 0 1
AutG112755STX1B - 16 31004756 G A 0 0 0 1 0 0 1 Positive
- 16 34739717 C G 0 0 0 1 0 0 1
AutG79801SHCBP1 - 16 46615744 G A 0 0 0 1 0 0 1
AutG55815TSNAXIP1 - 16 67860110 C T 0 0 0 1 0 0 1
AutG55066PDPR - 16 70176549 G A 0 0 0 1 0 0 1 Positive
AutG23450SF3B3 - 16 70578434 G A 0 0 0 1 0 0 1 Positive
AutG54768HYDIN - 16 70926398 T A 0 0 0 1 0 0 1
AutG497190CLEC18B - 16 74444453 C T 0 0 0 1 0 0 1 Positive
AutG497190CLEC18B - 16 74444506 T C 0 0 0 1 0 0 1
AutG114780PKD1L2 - 16 81134671 G A 0 0 0 1 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