Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 162199 copy number gain GRCh38/hg38 4q32.3(chr4:164306430-164542784)x3 -1 - 4 165227582 165463936 na na 162199 copy number gain GRCh38/hg38 4q32.3(chr4:164306430-164542784)x3 -1 - 4 164306430 164542784 na na 162199 copy number gain GRCh38/hg38 4q32.3(chr4:164306430-164542784)x3 -1 - 4 165447032 165683386 na na 243957 copy number gain NC_000004.11:g.(?_164465746)_(164905719_?)dup -1 - 4 164465746 164905719 na na

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 4 164532973 rs3792614 C A rs3792614 9.23E-04 PROPYLTHIOURACIL RECEPTORS, G-PROTEIN-COUPLED|TASTE RECEPTORS, TYPE 2 Taste perception HPOID:0000223 DOID:0050155 G intron GWASdb_drug 4 164922631 rs11736201 C T rs11736201 7.37E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_drug 4 164922836 rs11736266 C T rs11736266 8.57E-04 ALDOSTERONE BIOLOGICAL MARKERS|NATRIURETIC PEPTIDE, BRAIN|RENIN Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_drug 4 165201409 rs17044858 G A rs17044858 1.76E-08 CHOLESTEROL CADHERINS|H-CADHERIN|ADIPONECTIN|DNA PRIMERS Adiponectin levels HPOID:0011014 DOID:14221|DOID:9970|DOID:9352|DOID:1287 G intron GWASdb_drug 4 164446514 rs17576350 G A rs17576350 4.09E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 G UTR-3 GWASdb_trait 4 164451948 rs1992441 C T rs1992441 2.51E-04 Myocardial Infarction HPOID:0001658 DOID:5844 A intron GWASdb_trait 4 164459307 rs3797023 T C rs3797023 1.25E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 A intron GWASdb_trait 4 164463778 rs17473108 A G rs17473108 9.49E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 A intron GWASdb_trait 4 164466824 rs13130399 C T rs13130399 4.26E-04 Glaucoma (primary open-angle) HPOID:0012108 DOID:1686 C cds-synon GWASdb_trait 4 164474770 rs9631750 T C rs9631750 7.89E-06 Left ventricular hypertrophy HPOID:0001712 DOID:11984 T intron GWASdb_trait 4 164522410 rs1355504 C G rs1355504 2.20E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 4 164524609 rs1912822 C T rs1912822 1.44E-05 Follicular lymphoma HPOID:0002665 DOID:0060060 G intron GWASdb_trait 4 164532801 rs3792615 T C rs3792615 9.00E-06 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait 4 164560851 rs13123027 C T rs13123027 1.69E-04 Glaucoma (primary open-angle) HPOID:0012108 DOID:1686 T intron GWASdb_trait 4 164571285 rs17473710 G A rs17473710 2.71E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 4 164575991 rs1533151 A C rs1533151 1.51E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 4 164582457 rs1511776 G A rs1511776 3.02E-04 Body mass index HPOID:0001507 DOID:9970 C intron GWASdb_trait 4 164589328 rs13114557 G C rs13114557 4.67E-04 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 4 164617856 rs1039959 G C rs1039959 2.94E-04 Suicide, with and without major depression HPOID:0000716 DOID:1470 G,C intron GWASdb_trait 4 164623358 rs1170300 G C rs1170300 2.67E-04 Acute lung injury HPOID:0002088 DOID:850 C intron GWASdb_trait 4 164634372 rs1565840 C A rs1565840 9.18E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 T intron GWASdb_trait 4 164637972 rs6818812 C T rs6818812 7.49E-05 Monocyte counts HPOID:0012310 DOID:1936|DOID:74 T intron GWASdb_trait 4 164646996 rs6536751 C T rs6536751 6.00E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 4 164666859 rs17577474 G A rs17577474 3.52E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 4 164669428 rs12504820 C T rs12504820 2.15E-05 Monocyte counts HPOID:0012310 DOID:1936|DOID:74 C intron GWASdb_trait 4 164701659 rs1038975 G A rs1038975 6.90E-05 Monocyte counts HPOID:0012310 DOID:1936|DOID:74 C intron GWASdb_trait 4 164748523 rs2131862 G A rs2131862 1.42E-05 Monocyte counts HPOID:0012310 DOID:1936|DOID:74 C intron GWASdb_trait 4 164753387 rs1874094 C T rs1874094 9.25E-05 Response to mTOR inhibitor (everolimus) HPOID:0002665|HPOID:0005584|HPOID:0003002|HPOID:0100526|HPOID:0012114|HPOID:0100843 DOID:4450|DOID:1612|DOID:3908|DOID:2871|DOID:3068|DOID:0050746 G intron GWASdb_trait 4 164758471 rs11939053 A C rs11939053 8.91E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 4 164758471 rs11939053 A C rs11939053 3.14E-05 Monocyte counts HPOID:0012310 DOID:1936|DOID:74 A intron GWASdb_trait 4 164758578 rs7680927 A G rs7680927 5.18E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 4 164758636 rs7681115 A G rs7681115 5.96E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 4 164780120 rs978402 T C rs978402 4.10E-04 Type 2 diabetes and 6 quantitative traits HPOID:0005978 DOID:9352 A intron GWASdb_trait 4 164782515 rs7655259 C A rs7655259 4.41E-05 Amyotrophic lateral sclerosis (sporadic) HPOID:0007354 DOID:332 A intron GWASdb_trait 4 164796501 rs12645283 T C rs12645283 9.27E-05 Cytomegalovirus antibody response HPOID:0004377 DOID:10533 T intron GWASdb_trait 4 164798037 rs4554022 G T rs4554022 8.35E-05 Cytomegalovirus antibody response HPOID:0004377 DOID:10533 G intron GWASdb_trait 4 164809025 rs10023694 G T rs10023694 6.06E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 G intron GWASdb_trait 4 164829751 rs3890761 T C rs3890761 6.12E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 T intron GWASdb_trait 4 164915259 rs12510039 G A rs12510039 9.63E-05 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 4 164916190 rs4453901 A C rs4453901 8.04E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 4 164922631 rs11736201 C T rs11736201 7.37E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_trait 4 164922836 rs11736266 C T rs11736266 8.57E-04 Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption) HPOID:0011025 DOID:10763 C intron GWASdb_trait 4 164934874 rs10007601 G A rs10007601 1.60E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 4 164941538 rs17044409 A G rs17044409 1.52E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 4 164958626 rs10001082 T C rs10001082 3.00E-06 Parkinson's disease (interaction with coffee consumption) HPOID:0001300 DOID:14330 C intron GWASdb_trait 4 164959804 rs4533720 A G rs4533720 4.00E-07 Urinary uromodulin levels HPOID:0000077 DOID:557 G intron GWASdb_trait 4 164972162 rs6536779 T C rs6536779 7.21E-05 Tunica Media HPOID:0001627 DOID:114 T intron GWASdb_trait 4 164980534 rs13130053 C T rs13130053 1.90E-05 Urinary metabolites HPOID:0000079 DOID:557 C intron GWASdb_trait 4 164981604 rs17613361 A G rs17613361 2.41E-04 Height HPOID:0000002 NA A intron GWASdb_trait 4 165007900 rs41513048 G A rs41513048 2.35E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 4 165013565 rs919574 G A rs919574 2.64E-05 Telomere length HPOID:0000118 NA A intron GWASdb_trait 4 165014174 rs7659197 G T rs7659197 5.14E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 4 165029168 rs17044483 A T rs17044483 2.30E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 4 165043263 rs2952334 A G rs2952334 1.30E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 4 165054490 rs919572 A T rs919572 3.58E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 4 165060898 rs982257 T C rs982257 1.31E-04 Body mass index HPOID:0001507 DOID:9970 C intron GWASdb_trait 4 165077427 rs6840738 A C rs6840738 3.38E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 4 165085789 rs1431001 A T rs1431001 2.39E-04 Glycosylated haemoglobin levels HPOID:0011902|HPOID:0000077|HPOID:0001626|HPOID:0000819|HPOID:0000479 DOID:1287|DOID:9351|DOID:557|DOID:5679 T intron GWASdb_trait 4 165085902 rs1430999 G A rs1430999 3.13E-05 Glucose levels HPOID:0000819 DOID:9352 C intron GWASdb_trait 4 165093156 rs17044711 C T rs17044711 1.73E-05 Glucose levels HPOID:0000819 DOID:9352 C intron GWASdb_trait 4 165095228 rs1160724 C T rs1160724 2.40E-04 Body mass index HPOID:0001507 DOID:9970 A intron GWASdb_trait 4 165099463 rs1430979 T A,G rs1430979 2.04E-04 Body mass index HPOID:0001507 DOID:9970 C intron GWASdb_trait 4 165106489 rs1549807 G A rs1549807 2.24E-04 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait 4 165108780 rs1430977 G A rs1430977 2.07E-05 Glucose levels HPOID:0000819 DOID:9352 T intron GWASdb_trait 4 165132967 rs10001526 G T rs10001526 1.20E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 4 165147509 rs17614208 G A rs17614208 7.98E-06 Height HPOID:0000002 NA G intron GWASdb_trait 4 165160898 rs3890821 A C rs3890821 1.66E-05 Glycosylated haemoglobin levels HPOID:0011902|HPOID:0000077|HPOID:0001626|HPOID:0000819|HPOID:0000479 DOID:1287|DOID:9351|DOID:557|DOID:5679 T intron GWASdb_trait 4 165201409 rs17044858 G A rs17044858 1.76E-08 Adiponectin levels HPOID:0011014 DOID:14221|DOID:9970|DOID:9352|DOID:1287 G intron GWASdb_trait 4 165202782 rs2321376 G A rs2321376 1.75E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 4 165216639 rs4611881 G C rs4611881 7.85E-04 Coronary Artery Disease HPOID:0001677 DOID:3393 G intron GWASdb_trait 4 165221971 rs6829588 G T rs6829588 8.31E-04 Obesity (extreme) HPOID:0001513 DOID:9970 T intron GWASdb_trait 4 165268349 rs13125269 A G rs13125269 3.23E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 4 165278592 rs12506846 C T rs12506846 6.02E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 4 165284574 rs4431170 A G rs4431170 0.00000728 Bisphosphonate-induced osteonecrosis of the jaw HPOID:0003368 DOID:10159 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000145416.13 MARCH1 613331