Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 157088 copy number loss GRCh38/hg38 7q32.2(chr7:129823107-129976785)x1 -1 - 7 129462947 129616625 na na 157088 copy number loss GRCh38/hg38 7q32.2(chr7:129823107-129976785)x1 -1 - 7 129823107 129976785 na na 157088 copy number loss GRCh38/hg38 7q32.2(chr7:129823107-129976785)x1 -1 - 7 129250183 129403861 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 7 129502461 rs2727464 G A rs2727464 1.49E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 G intron GWASdb_trait 7 129587224 rs3817530 T G rs3817530 4.78E-04 Longevity HPOID:0000118 NA G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000186591.11 UBE2H 601082