Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 259813 single nucleotide variant NM_015465.4(GEMIN5):c.3203T>C (p.Leu1068Pro) 371174241 MedGen:CN169374 5 154278142 154278142 A G 259813 single nucleotide variant NM_015465.4(GEMIN5):c.3203T>C (p.Leu1068Pro) 371174241 MedGen:CN169374 5 154898582 154898582 A G

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 5 154307794 rs7726729 G A rs7726729 5.90E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000082516.8 GEMIN5 607005