Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 158602 copy number loss GRCh38/hg38 5q14.1-14.2(chr5:81756567-82198683)x1 -1 - 5 81052386 81494502 na na 158602 copy number loss GRCh38/hg38 5q14.1-14.2(chr5:81756567-82198683)x1 -1 - 5 81756567 82198683 na na 158602 copy number loss GRCh38/hg38 5q14.1-14.2(chr5:81756567-82198683)x1 -1 - 5 81088142 81530258 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 81533735 rs6888977 C T rs6888977 3.17E-04 CHOLESTEROL ABCG8 PROTEIN, HUMAN Gallstones HPOID:0001081 DOID:11151 T intron GWASdb_drug 5 81371755 rs12108833 A G rs12108833 1.49E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 A intron GWASdb_trait 5 81515446 rs4703871 T C rs4703871 1.58E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 5 81533735 rs6888977 C T rs6888977 3.17E-04 Gallstones HPOID:0001081 DOID:11151 T intron GWASdb_trait 5 81541238 rs2195448 C T rs2195448 3.16E-04 Alzheimer's disease (late onset) HPOID:0002511 DOID:10652 A intron GWASdb_trait 5 81546918 rs12523353 C A rs12523353 1.88E-10 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000152348.15 ATG10 610800