Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 270132 single nucleotide variant NM_012335.3(MYO1F):c.886C>T (p.Arg296Ter) 764799983 MedGen:CN169374 19 8615464 8615464 G A 270132 single nucleotide variant NM_012335.3(MYO1F):c.886C>T (p.Arg296Ter) 764799983 MedGen:CN169374 19 8550580 8550580 G A 361233 single nucleotide variant NM_012335.3(MYO1F):c.1781G>A (p.Arg594Gln) 148281976 Human Phenotype Ontology:HP:0008619,MedGen:CN007584 19 8601851 8601851 C T 361233 single nucleotide variant NM_012335.3(MYO1F):c.1781G>A (p.Arg594Gln) 148281976 Human Phenotype Ontology:HP:0008619,MedGen:CN007584 19 8536967 8536967 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 8586086 rs1054623 C A rs1054623 5.00E-04 Amyotrophic Lateral Sclerosis HPOID:0007354 DOID:332 G UTR-3 GWASdb_trait 19 8587782 rs10408143 T C rs10408143 5.60E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 C intron GWASdb_trait 19 8615268 rs2303686 T C rs2303686 9.84E-04 Coronary heart disease HPOID:0001677 DOID:3393 G,A intron GWASdb_trait 19 8615268 rs2303686 T C rs2303686 3.48E-04 Lung function (forced vital capacity) HPOID:0002088 DOID:850 G,A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000142347.16 MYO1F 601480