Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 39147 single nucleotide variant NM_004998.3(MYO1E):c.475G>C (p.Ala159Pro) 387906807 MedGen:C3279905,OMIM:614131 15 59523936 59523936 C G 39147 single nucleotide variant NM_004998.3(MYO1E):c.475G>C (p.Ala159Pro) 387906807 MedGen:C3279905,OMIM:614131 15 59231737 59231737 C G 39148 single nucleotide variant MYO1E, TYR695TER -1 MedGen:C3279905,OMIM:614131 na -1 -1 na na 215527 single nucleotide variant NM_001080779.1(MYO1C):c.2574A>C (p.Lys858Asn) 61753652 MedGen:CN169374 17 1372861 1372861 T G 215527 single nucleotide variant NM_001080779.1(MYO1C):c.2574A>C (p.Lys858Asn) 61753652 MedGen:CN169374 17 1469567 1469567 T G 215528 single nucleotide variant NM_001080779.1(MYO1C):c.1483-6C>G 193155058 MedGen:CN169374 17 1477602 1477602 G C 215528 single nucleotide variant NM_001080779.1(MYO1C):c.1483-6C>G 193155058 MedGen:CN169374 17 1380896 1380896 G C 223652 single nucleotide variant NM_001080779.1(MYO1C):c.391C>T (p.Arg131Cys) 200048542 MedGen:CN235161 17 1386310 1386310 G A 223652 single nucleotide variant NM_001080779.1(MYO1C):c.391C>T (p.Arg131Cys) 200048542 MedGen:CN235161 17 1483016 1483016 G A

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 59456637 rs17190785 G A rs17190785 1.07E-05 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 G intron GWASdb_drug 15 59458212 rs10519001 G T rs10519001 6.28E-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 T intron GWASdb_drug 15 59466217 rs2242321 T G rs2242321 1.76E-04 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 A intron GWASdb_drug 15 59467053 rs11854052 T C rs11854052 4.52E-06 NICOTINE|BUPROPION NICOTINIC AGONISTS|ANTIDEPRESSIVE AGENTS, SECOND-GENERATION Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_drug 15 59487930 rs2306786 C G rs2306786 1.00E-10 ALPHA 1-ANTITRYPSIN AQUAPORINS|SERPINA1 PROTEIN, HUMAN|AQP9 PROTEIN, HUMAN Metabolite levels (atherosclerosis) HPOID:0002621 DOID:1936 C intron GWASdb_drug 15 59602998 rs17236557 C A rs17236557 4.76E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 15 59603896 rs1017888 T G rs1017888 2.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 15 59428658 rs4218 C G rs4218 1.00E-07 Social communication problems HPOID:0000717 DOID:0060041 G UTR-3 GWASdb_trait 15 59453384 rs2306791 T C rs2306791 1.04E-11 Metabolite levels HPOID:0001939 DOID:655 G cds-synon GWASdb_trait 15 59456637 rs17190785 G A rs17190785 1.07E-05 Smoking cessation HPOID:0000707 DOID:0050742 G intron GWASdb_trait 15 59458212 rs10519001 G T rs10519001 6.28E-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 T intron GWASdb_trait 15 59458212 rs10519001 G T rs10519001 1.55E-05 Parkinson's disease HPOID:0001300 DOID:14330 T intron GWASdb_trait 15 59458663 rs12442723 T C rs12442723 2.32E-12 Metabolite levels HPOID:0001939 DOID:655 T intron GWASdb_trait 15 59466217 rs2242321 T G rs2242321 1.76E-04 Smoking cessation HPOID:0000707 DOID:0050742 A intron GWASdb_trait 15 59466989 rs3816815 C G,T rs3816815 8.04E-04 Obesity (extreme) HPOID:0001513 DOID:9970 C intron GWASdb_trait 15 59466989 rs3816815 C G,T rs3816815 8.03E-13 Metabolite levels HPOID:0001939 DOID:655 C intron GWASdb_trait 15 59467053 rs11854052 T C rs11854052 4.52E-06 Smoking cessation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 15 59470217 rs12595602 T C rs12595602 2.28E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 15 59476088 rs11632157 A C rs11632157 3.28E-12 Metabolite levels HPOID:0001939 DOID:655 A intron GWASdb_trait 15 59476316 rs11637519 T C rs11637519 3.21E-12 Metabolite levels HPOID:0001939 DOID:655 C intron GWASdb_trait 15 59476635 rs8036783 C T rs8036783 5.62E-13 Metabolite levels HPOID:0001939 DOID:655 T intron GWASdb_trait 15 59486738 rs12593888 T C rs12593888 1.80E-12 Metabolite levels HPOID:0001939 DOID:655 T intron GWASdb_trait 15 59487930 rs2306786 C G rs2306786 1.00E-10 Metabolite levels (atherosclerosis) HPOID:0002621 DOID:1936 C intron GWASdb_trait 15 59505191 rs7165001 C T rs7165001 7.41E-13 Metabolite levels HPOID:0001939 DOID:655 T intron GWASdb_trait 15 59510189 rs2230155 G A,C,T rs2230155 9.65E-04 Multiple complex diseases HPOID:0000118 NA C cds-synon GWASdb_trait 15 59559968 rs17236509 C G rs17236509 6.57E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 15 59591079 rs3743501 G T rs3743501 1.65E-05 Blood Pressure HPOID:0011025 DOID:10763 G intron GWASdb_trait 15 59591079 rs3743501 G T rs3743501 7.53E-05 Blood Pressure HPOID:0011025 DOID:10763 G intron GWASdb_trait 15 59594230 rs1484284 T C rs1484284 9.06E-06 Blood Pressure HPOID:0011025 DOID:10763 G intron GWASdb_trait 15 59602998 rs17236557 C A rs17236557 4.76E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 15 59603896 rs1017888 T G rs1017888 2.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 15 59609753 rs10851648 T G rs10851648 7.49E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000157483.8 MYO1E 601479