Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 205439 single nucleotide variant NM_018323.3(PI4K2B):c.10C>A (p.Pro4Thr) 863223383 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 4 25234173 25234173 C A 205439 single nucleotide variant NM_018323.3(PI4K2B):c.10C>A (p.Pro4Thr) 863223383 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 4 25235795 25235795 C A 205440 single nucleotide variant NM_018323.3(PI4K2B):c.861G>T (p.Gln287His) 143048917 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 4 25259141 25259141 G T 205440 single nucleotide variant NM_018323.3(PI4K2B):c.861G>T (p.Gln287His) 143048917 Human Phenotype Ontology:HP:0002269,MedGen:CN002060 4 25260763 25260763 G T