Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 159845 copy number gain GRCh38/hg38 7p21.1(chr7:16925050-17334072)x3 -1 - 7 16964674 17373696 na na 159845 copy number gain GRCh38/hg38 7p21.1(chr7:16925050-17334072)x3 -1 - 7 16925050 17334072 na na 159845 copy number gain GRCh38/hg38 7p21.1(chr7:16925050-17334072)x3 -1 - 7 16931199 17340221 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 17357873 rs1476080 T G rs1476080 4.19E-06 CAFFEINE CYTOCHROME P-450 CYP1A2|RECEPTORS, ARYL HYDROCARBON Caffeine consumption HPOID:0000707 NA A intron GWASdb_drug 7 17380662 rs2040623 A C rs2040623 3.67E-05 CAFFEINE CYTOCHROME P-450 CYP1A2|RECEPTORS, ARYL HYDROCARBON Caffeine consumption HPOID:0000707 NA T intron GWASdb_drug 7 17357873 rs1476080 T G rs1476080 4.19E-06 Caffeine consumption HPOID:0000707 NA A intron GWASdb_trait 7 17380662 rs2040623 A C rs2040623 3.67E-05 Caffeine consumption HPOID:0000707 NA T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000106546.12 AHR 600253