Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 226967 single nucleotide variant NM_001242875.2(ELP2):c.812A>G (p.His271Arg) 773432002 MeSH:D030342,MedGen:C0950123;MedGen:CN239931,OMIM:617270 18 33722272 33722272 A G 226967 single nucleotide variant NM_001242875.2(ELP2):c.812A>G (p.His271Arg) 773432002 MeSH:D030342,MedGen:C0950123;MedGen:CN239931,OMIM:617270 18 36142309 36142309 A G 226968 single nucleotide variant NM_001242875.2(ELP2):c.1579C>T (p.Arg527Trp) 767713084 MeSH:D030342,MedGen:C0950123;MedGen:CN239931,OMIM:617270 18 33736537 33736537 C T 226968 single nucleotide variant NM_001242875.2(ELP2):c.1579C>T (p.Arg527Trp) 767713084 MeSH:D030342,MedGen:C0950123;MedGen:CN239931,OMIM:617270 18 36156574 36156574 C T 247152 single nucleotide variant NM_001242875.2(ELP2):c.2539A>G (p.Ile847Val) 748677134 MedGen:CN169374 18 36174504 36174504 A G 247152 single nucleotide variant NM_001242875.2(ELP2):c.2539A>G (p.Ile847Val) 748677134 MedGen:CN169374 18 33754467 33754467 A G 361816 single nucleotide variant NM_001242875.2(ELP2):c.1858A>C (p.Thr620Pro) 772450541 MedGen:CN239931,OMIM:617270 18 33739953 33739953 A C 361816 single nucleotide variant NM_001242875.2(ELP2):c.1858A>C (p.Thr620Pro) 772450541 MedGen:CN239931,OMIM:617270 18 36159990 36159990 A C 361817 single nucleotide variant NM_001242875.2(ELP2):c.1580G>T (p.Arg527Leu) 371310428 MedGen:CN239931,OMIM:617270 18 33736538 33736538 G T 361817 single nucleotide variant NM_001242875.2(ELP2):c.1580G>T (p.Arg527Leu) 371310428 MedGen:CN239931,OMIM:617270 18 36156575 36156575 G 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 18 33710170 rs1785900 C T rs1785900 6.00E-04 Esophageal squamous cell cancer (length of survival) HPOID:0011459 DOID:1107 C intron GWASdb_trait 18 33710440 rs9958282 T A rs9958282 6.00E-04 Esophageal squamous cell cancer (length of survival) HPOID:0011459 DOID:1107 T intron GWASdb_trait 18 33710610 rs1010955 T C rs1010955 6.00E-04 Esophageal squamous cell cancer (length of survival) HPOID:0011459 DOID:1107 T intron GWASdb_trait 18 33711274 rs948417 A G rs948417 4.00E-04 Esophageal squamous cell cancer (length of survival) HPOID:0011459 DOID:1107 A intron GWASdb_trait 18 33719044 rs3737473 A G rs3737473 6.04E-05 HIV-1 viral setpoint HPOID:0002721 DOID:526 T intron GWASdb_trait 18 33721325 rs3819174 C T rs3819174 2.99E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 18 33721325 rs3819174 C T rs3819174 6.40E-06 Age-related macular degeneration HPOID:0007868 DOID:10871 G intron GWASdb_trait 18 33752823 rs2032206 A G rs2032206 6.40E-06 Age-related macular degeneration HPOID:0007868 DOID:10871 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000134759.13 ELP2 616054