Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 19791 single nucleotide variant NM_016553.4(NUP62):c.1172A>C (p.Gln391Pro) 121917865 MedGen:C0795996,OMIM:271930 19 50411893 50411893 T G 19791 single nucleotide variant NM_016553.4(NUP62):c.1172A>C (p.Gln391Pro) 121917865 MedGen:C0795996,OMIM:271930 19 49908636 49908636 T G 135292 single nucleotide variant NM_153719.3(NUP62):c.1323T>C (p.Asp441=) 892028 MedGen:CN169374 19 50411742 50411742 A G 135292 single nucleotide variant NM_153719.3(NUP62):c.1323T>C (p.Asp441=) 892028 MedGen:CN169374 19 49908485 49908485 A G 135293 single nucleotide variant NM_153719.3(NUP62):c.549G>A (p.Thr183=) 1984656 MedGen:CN169374 19 50412516 50412516 C T 135293 single nucleotide variant NM_153719.3(NUP62):c.549G>A (p.Thr183=) 1984656 MedGen:CN169374 19 49909259 49909259 C T 135294 single nucleotide variant NM_153719.3(NUP62):c.648C>T (p.Ser216=) 999583 MedGen:CN169374 19 50412417 50412417 G A 135294 single nucleotide variant NM_153719.3(NUP62):c.648C>T (p.Ser216=) 999583 MedGen:CN169374 19 49909160 49909160 G A 135295 single nucleotide variant NM_153719.3(NUP62):c.848G>C (p.Ser283Thr) 1062798 MedGen:CN169374 19 50412217 50412217 C G 135295 single nucleotide variant NM_153719.3(NUP62):c.848G>C (p.Ser283Thr) 1062798 MedGen:CN169374 19 49908960 49908960 C G 208620 single nucleotide variant NM_153719.3(NUP62):c.192C>T (p.Thr64=) 145084636 MedGen:CN169374 19 50412873 50412873 G A 208620 single nucleotide variant NM_153719.3(NUP62):c.192C>T (p.Thr64=) 145084636 MedGen:CN169374 19 49909616 49909616 G A 247174 single nucleotide variant NM_016553.4(NUP62):c.337G>A (p.Gly113Ser) 200398387 MedGen:CN169374 19 50412728 50412728 C T 247174 single nucleotide variant NM_016553.4(NUP62):c.337G>A (p.Gly113Ser) 200398387 MedGen:CN169374 19 49909471 49909471 C T

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 19 50419399 rs1299491 A C rs1299491 8.70E-08 Meningococcal disease HPOID:0001287 DOID:9931 C intron GWASdb_trait 19 50431388 rs3826777 G A rs3826777 3.86E-05 Monocyte counts HPOID:0012310 DOID:1936|DOID:74 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000213024.11 NUP62 605815