Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 361820 single nucleotide variant NM_001128608.1(MAPKBP1):c.592C>T (p.Arg198Ter) -1 MedGen:CN230115,OMIM:617271 15 42104807 42104807 C T 361820 single nucleotide variant NM_001128608.1(MAPKBP1):c.592C>T (p.Arg198Ter) -1 MedGen:CN230115,OMIM:617271 15 41812609 41812609 C T 361821 single nucleotide variant NM_001128608.1(MAPKBP1):c.4393C>T (p.Arg1465Ter) -1 MedGen:CN230115,OMIM:617271 15 42117482 42117482 C T 361821 single nucleotide variant NM_001128608.1(MAPKBP1):c.4393C>T (p.Arg1465Ter) -1 MedGen:CN230115,OMIM:617271 15 41825284 41825284 C T 361822 single nucleotide variant MAPKBP1, ARG440TER (rs202001274) -1 MedGen:CN230115,OMIM:617271 na -1 -1 na na 361823 single nucleotide variant NM_001128608.1(MAPKBP1):c.1631G>A (p.Arg544Gln) -1 MedGen:CN230115,OMIM:617271 15 41816937 41816937 G A 361823 single nucleotide variant NM_001128608.1(MAPKBP1):c.1631G>A (p.Arg544Gln) -1 MedGen:CN230115,OMIM:617271 15 42109135 42109135 G A 361824 single nucleotide variant NM_001128608.1(MAPKBP1):c.2444-1G>A -1 MedGen:CN230115,OMIM:617271 15 42111792 42111792 G A 361824 single nucleotide variant NM_001128608.1(MAPKBP1):c.2444-1G>A -1 MedGen:CN230115,OMIM:617271 15 41819594 41819594 G A 361825 single nucleotide variant NM_001128608.1(MAPKBP1):c.2827C>T (p.Gln943Ter) 752616462 MedGen:CN230115,OMIM:617271 15 42113872 42113872 C T 361825 single nucleotide variant NM_001128608.1(MAPKBP1):c.2827C>T (p.Gln943Ter) 752616462 MedGen:CN230115,OMIM:617271 15 41821674 41821674 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 15 42077961 rs8035855 G A rs8035855 2.65E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 G intron GWASdb_drug 15 42109975 rs2303518 T G rs2303518 8.64E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 C intron GWASdb_drug 15 42077961 rs8035855 G A rs8035855 2.65E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 G intron GWASdb_trait 15 42090101 rs11635086 A G rs11635086 0.0000086 LDL cholesterol particle diameter HPOID:0010979 DOID:1936|DOID:3393 A intron GWASdb_trait 15 42091212 rs2925339 A G rs2925339 5.06E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 15 42097736 rs1197690 G A rs1197690 0.000370758 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 G intron GWASdb_trait 15 42109975 rs2303518 T G rs2303518 8.64E-04 Response to cytidine analogues (gemcitabine) HPOID:0002664 DOID:162 C intron GWASdb_trait 15 42119900 rs1043627 T C rs1043627 0.000707405 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 NA UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000137802.13 MAPKBP1 616786