Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 160822 copy number loss GRCh38/hg38 3p25.3(chr3:11377628-11541810)x1 -1 - 3 11419102 11583284 na na 160822 copy number loss GRCh38/hg38 3p25.3(chr3:11377628-11541810)x1 -1 - 3 11377628 11541810 na na 160822 copy number loss GRCh38/hg38 3p25.3(chr3:11377628-11541810)x1 -1 - 3 11394102 11558284 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 3 11327840 rs346078 G C rs346078 1.20E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 3 11369117 rs2594995 G A rs2594995 4.06E-04 Nicotine dependence HPOID:0000707 DOID:0050742 T intron GWASdb_trait 3 11374955 rs2606747 T C,G rs2606747 6.67E-04 Nicotine dependence HPOID:0000707 DOID:0050742 G intron GWASdb_trait 3 11383347 rs2594978 C A rs2594978 4.13E-04 Nicotine dependence HPOID:0000707 DOID:0050742 T intron GWASdb_trait 3 11391717 rs2606742 G A rs2606742 5.80E-04 Nicotine dependence HPOID:0000707 DOID:0050742 T intron GWASdb_trait 3 11400249 rs2606736 C T rs2606736 5.00E-08 HDL cholesterol HPOID:0003107 DOID:14502|DOID:1461|DOID:3393 G intron GWASdb_trait 3 11442013 rs7621218 C T rs7621218 3.27E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 3 11463730 rs9874535 A G rs9874535 5.47E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 3 11477387 rs7623889 C T rs7623889 8.57E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 3 11509668 rs9818393 C T rs9818393 1.52E-04 Obesity (extreme) HPOID:0001513 DOID:9970 C intron GWASdb_trait 3 11518755 rs4684782 T C rs4684782 6.26E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T,C intron GWASdb_trait 3 11559102 rs17536147 G C rs17536147 4.91E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 3 11590751 rs6442260 G A rs6442260 8.69E-04 Type 2 diabetes HPOID:0005978 DOID:9352 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000197548.12 ATG7 608760