neXtProt/NXQ_00255

Variants identified in exome datasets with a frequency of >0.1

Use at

• https://sparql.nextprot.org/sparql

PREFIX : <http://nextprot.org/rdf/>

SELECT DISTINCT ?entry ?varpos ?freq where
{
 ?entry :isoform ?iso .
 ?iso :swissprotDisplayed true .
 ?iso :variant ?var .
 ?var :start ?varpos .
 ?var :evidence ?ev .
 ?ev :alleleNumber ?anb .
 ?ev :alleleFrequency ?freq .
 filter(?freq > 0.1 && ?anb > 100000)
 } order by desc(?freq)

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v2("?anb")
  v3("?entry"):::projected 
  v7("?ev")
  v1("?freq"):::projected 
  v4("?iso")
  v5("?var")
  v6("?varpos"):::projected 
  c5(["true^^xsd:boolean"]):::literal 
  f0[["?freq > '0.1^^xsd:decimal'?anb > '100000^^xsd:integer'"]]
  f0 --> v1
  f0 --> v2
  v3 --":isoform"-->  v4
  v4 --":swissprotDisplayed"-->  c5
  v4 --":variant"-->  v5
  v5 --":start"-->  v6
  v5 --":evidence"-->  v7
  v7 --":alleleNumber"-->  v2
  v7 --":alleleFrequency"-->  v1