Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 161151 copy number gain GRCh38/hg38 2q13(chr2:111800385-111834510)x3 -1 - 2 112557962 112592087 na na 161151 copy number gain GRCh38/hg38 2q13(chr2:111800385-111834510)x3 -1 - 2 111800385 111834510 na na 161151 copy number gain GRCh38/hg38 2q13(chr2:111800385-111834510)x3 -1 - 2 112274433 112308558 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 2 112624327 rs4848208 G A rs4848208 3.97E-05 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 2 112624436 rs4848819 C T rs4848819 5.23E-05 Self-reported allergy HPOID:0002715 DOID:0060056 C intron GWASdb_trait 2 112625575 rs6742515 T C rs6742515 0.00000769 Nicotine dependence (smoking) HPOID:0000707 DOID:0050742 T intron GWASdb_trait 2 112626638 rs4848209 A G rs4848209 2.85E-05 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 2 112627223 rs10197222 A G rs10197222 0.00000899 Nicotine dependence (smoking) HPOID:0000707 DOID:0050742 A intron GWASdb_trait 2 112634339 rs1516637 C T rs1516637 2.53E-05 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 2 112634737 rs9653414 G A rs9653414 0.00000799 Nicotine dependence (smoking) HPOID:0000707 DOID:0050742 A,G intron GWASdb_trait 2 112634737 rs9653414 G A rs9653414 2.17E-05 Self-reported allergy HPOID:0002715 DOID:0060056 A,G intron GWASdb_trait 2 112636685 rs10175926 G A rs10175926 5.35E-05 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 2 112641666 rs3814026 T C rs3814026 0.00016 Nicotine dependence (smoking) HPOID:0000707 DOID:0050742 C,T UTR-5 GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs1548189 2 112633562 112633562 intronic 0.989116 0.00475277290666312 GWAS of prostate cancer rs3814026 2 112641666 112641666 UTR5 0.910503 0.040718618917606704

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000153107.11 ANAPC1 608473