Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 248784 single nucleotide variant NM_004434.2(EML1):c.412C>T (p.Arg138Ter) 886037935 MedGen:C1838239,OMIM:600348 14 99878513 99878513 C T 248784 single nucleotide variant NM_004434.2(EML1):c.412C>T (p.Arg138Ter) 886037935 MedGen:C1838239,OMIM:600348 14 100344850 100344850 C T 248785 single nucleotide variant NM_004434.2(EML1):c.727A>G (p.Thr243Ala) 886037936 MedGen:C1838239,OMIM:600348 14 99897194 99897194 A G 248785 single nucleotide variant NM_004434.2(EML1):c.727A>G (p.Thr243Ala) 886037936 MedGen:C1838239,OMIM:600348 14 100363531 100363531 A G 248786 single nucleotide variant NM_004434.2(EML1):c.673T>C (p.Trp225Arg) 886037937 MedGen:C1838239,OMIM:600348 14 99894754 99894754 T C 248786 single nucleotide variant NM_004434.2(EML1):c.673T>C (p.Trp225Arg) 886037937 MedGen:C1838239,OMIM:600348 14 100361091 100361091 T C

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 14 100330046 rs4905908 T C rs4905908 4.59E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_drug 14 100333862 rs1957509 G A rs1957509 4.19E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 A intron GWASdb_drug 14 100340583 rs6575751 C T rs6575751 2.40E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_drug 14 100376715 rs2145859 G A rs2145859 9.33E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_drug 14 100275413 rs4905897 T C rs4905897 6.79E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 14 100275698 rs4905898 C G rs4905898 3.61E-05 Alzheimer's disease HPOID:0002511 DOID:10652 G,C intron GWASdb_trait 14 100275698 rs4905898 C G rs4905898 5.84E-05 Alzheimer's disease HPOID:0002511 DOID:10652 G,C intron GWASdb_trait 14 100276707 rs10141863 G A rs10141863 2.29E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 14 100276707 rs10141863 G A rs10141863 3.75E-06 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 14 100278855 rs12891247 A C rs12891247 6.53E-05 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 14 100330046 rs4905908 T C rs4905908 4.59E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_trait 14 100331876 rs11160553 T C rs11160553 6.02E-04 Myopia (pathological) HPOID:0000545 DOID:11830 T cds-synon GWASdb_trait 14 100333862 rs1957509 G A rs1957509 4.19E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 A intron GWASdb_trait 14 100340583 rs6575751 C T rs6575751 2.40E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_trait 14 100376715 rs2145859 G A rs2145859 9.33E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_trait 14 100384232 rs2273704 A C rs2273704 5.66E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 14 100384232 rs2273704 A C rs2273704 2.80E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait 14 100386584 rs11160559 A G rs11160559 5.51E-04 Dental caries HPOID:0000670 DOID:216 G intron GWASdb_trait 14 100398318 rs7157261 C T rs7157261 6.84E-05 Lung adenocarcinoma HPOID:0100526 DOID:3910 C intron GWASdb_trait 14 100400513 rs8020741 C T rs8020741 6.41E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 14 100403616 rs11160562 A G rs11160562 0.000693 Bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 14 100405757 rs2236282 C T rs2236282 2.63E-06 Lung adenocarcinoma HPOID:0100526 DOID:3910 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000066629.16 EML1 602033