Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 160627 copy number gain GRCh38/hg38 18q23(chr18:80229728-80254936)x3 -1 - 18 77987611 78012819 na na 160627 copy number gain GRCh38/hg38 18q23(chr18:80229728-80254936)x3 -1 - 18 80229728 80254936 na na 160627 copy number gain GRCh38/hg38 18q23(chr18:80229728-80254936)x3 -1 - 18 76088602 76113807 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 18 77950543 rs8083877 T C rs8083877 3.91E-04 Body mass index HPOID:0001507 DOID:9970 C intron GWASdb_trait 18 77957325 rs4799144 G A rs4799144 1.39E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 18 77998375 rs1122752 A G rs1122752 3.73E-04 Blood pressure HPOID:0011025 DOID:10763 T intron GWASdb_trait 18 78002239 rs6506819 T C rs6506819 2.43E-04 Body mass index HPOID:0001507 DOID:9970 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000178184.15 PARD6G 608976