Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 162188 copy number gain GRCh38/hg38 5q21.3(chr5:109373305-109472970)x3 -1 - 5 108709006 108808671 na na 162188 copy number gain GRCh38/hg38 5q21.3(chr5:109373305-109472970)x3 -1 - 5 109373305 109472970 na na 162188 copy number gain GRCh38/hg38 5q21.3(chr5:109373305-109472970)x3 -1 - 5 108736905 108836570 na na

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 108683248 rs413387 G C rs413387 1.81E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 108699161 rs11738695 C A rs11738695 3.20E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 5 108730773 rs2963024 C T rs2963024 7.05E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait