PHF14
Disease associated variation - ClinVar
Allele IDTypeNameRS#dbSNPPhenotype IDsChromosomeStartStopReferenceAlternate
159928copy number gainGRCh38/hg38 7p21.3(chr7:11055430-11162069)x3-1-71109505711201696nana
159928copy number gainGRCh38/hg38 7p21.3(chr7:11055430-11162069)x3-1-71105543011162069nana
159928copy number gainGRCh38/hg38 7p21.3(chr7:11055430-11162069)x3-1-71106158211168221nana
Disease associated variation - GWASdb
ChrPosSNP ID(dbSNP 142)RefAltOri SNP IDP-valueDrug NameDrug AnnoGWAS TraitHPO IDDO IDAATypeTrait or Drug
711022230rs218966AGrs2189665.50E-10StrokeHPOID:0001297DOID:6713TmissenseGWASdb_trait
711140383rs7790568TCrs77905687.03E-05Cognitive performanceHPOID:0100543DOID:1561TintronGWASdb_trait