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
AutG56344CABP5 - 19 48542567 G A 0 0 0 1 0 0 1
AutG57664PLEKHA4 - 19 49341342 C T 0 0 0 1 0 0 1
AutG23645PPP1R15A - 19 49376940 A C 0 0 0 1 0 0 1
AutG8778SIGLEC5 - 19 52133140 C G 0 0 0 1 0 0 1
AutG90317ZNF616 - 19 52633785 C A 0 0 0 1 0 0 1
AutG5582PRKCG - 19 54395806 G T 0 0 0 1 0 0 1
- 19 54734002 T C 0 0 0 1 0 0 1
AutG199713NLRP7 - 19 55439074 C G 0 0 0 1 0 0 1
AutG255043TMEM86B - 19 55739655 A G 0 0 0 1 0 0 1
AutG342933ZSCAN5B - 19 56701754 C G 0 0 0 1 0 0 1
AutG342933ZSCAN5B - 19 56720024 G T 0 0 0 1 0 0 1
AutG57573ZNF471 - 19 57035824 C A 0 0 0 1 0 0 1
AutG147687ZNF417 - 19 58427771 C T 0 0 0 1 0 0 1
AutG129607CMPK2 - 2 6990025 G A 0 0 0 1 0 0 1
AutG3777KCNK3 - 2 26950618 G C 0 0 0 1 0 0 1 Positive
AutG10113PREB - 2 27354322 G A 0 0 0 1 0 0 1
AutG5496PPM1G - 2 27604615 T C 0 0 0 1 0 0 1 Positive
- 2 32690189 A G 0 0 0 1 0 0 1
AutG57448BIRC6 - 2 32730150 G C 0 0 0 1 0 0 1 Positive
AutG55471NDUFAF7 - 2 37473275 A C 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