Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 223048 single nucleotide variant NM_033238.2(PML):c.2264G>C (p.Arg755Pro) 780746013 MedGen:C1527349 15 74336964 74336964 G C 223048 single nucleotide variant NM_033238.2(PML):c.2264G>C (p.Arg755Pro) 780746013 MedGen:C1527349 15 74044623 74044623 G C

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 15 74291023 rs3784562 G A rs3784562 4.50E-13 Progranulin levels HPOID:0011018 DOID:9255 T,C intron GWASdb_trait 15 74291023 rs3784562 G A rs3784562 4.50E-13 Myocardial infarction HPOID:0001658 DOID:5844 T,C intron GWASdb_trait 15 74305966 rs8039584 C T rs8039584 5.00E-08 Myopia (pathological) HPOID:0000545 DOID:11830 C intron GWASdb_trait 15 74311689 rs12592370 A G rs12592370 4.50E-04 Pulmonary function HPOID:0002795 DOID:2841|DOID:3083 A intron GWASdb_trait 15 74312794 rs11072468 T C rs11072468 4.96E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 T intron GWASdb_trait 15 74317362 rs3825941 G A rs3825941 2.37E-14 Glaucoma (exfoliation) HPOID:0000501 DOID:1686 C intron GWASdb_trait 15 74331083 rs10851869 T C rs10851869 0.0005 Normoxic and mild-hypoxic adaptation in populations residing at low and moderate altitudes HPOID:0002795 DOID:2841|DOID:3083 C intron GWASdb_trait 15 74331083 rs10851869 T C rs10851869 2.66E-17 Glaucoma (exfoliation) HPOID:0000501 DOID:1686 C intron GWASdb_trait 15 74331211 rs1550434 C T rs1550434 2.00E-05 Pulmonary function HPOID:0002795 DOID:2841|DOID:3083 C intron GWASdb_trait 15 74331385 rs1550435 T C rs1550435 4.28E-17 Glaucoma (exfoliation) HPOID:0000501 DOID:1686 C intron GWASdb_trait 15 74332188 rs3784556 C A rs3784556 1.22E-13 Glaucoma (exfoliation) HPOID:0000501 DOID:1686 T intron GWASdb_trait 15 74333413 rs876383 G A rs876383 4.85E-05 Blood Pressure HPOID:0011025 DOID:10763 G intron GWASdb_trait 15 74336633 rs5742915 T C rs5742915 1.00E-15 Height HPOID:0000002 NA T missense GWASdb_trait 15 74336633 rs5742915 T C rs5742915 2.00E-14 Paget's disease HPOID:0000924 DOID:5408 T missense GWASdb_trait 15 74336633 rs5742915 T C rs5742915 3.42E-04 Height HPOID:0000002 NA T missense GWASdb_trait 15 74338939 rs6772 C T rs6772 1.15E-04 Glaucoma (exfoliation) HPOID:0000501 DOID:1686 C UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000140464.19 PML 102578