Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 161532 copy number gain GRCh38/hg38 Xq23-24(chrX:117115633-118037937)x3 -1 - X 116249601 117171900 na na 161532 copy number gain GRCh38/hg38 Xq23-24(chrX:117115633-118037937)x3 -1 - X 117115633 118037937 na na 161532 copy number gain GRCh38/hg38 Xq23-24(chrX:117115633-118037937)x3 -1 - X 116133629 117055928 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 X 117088056 rs2430212 T C rs2430212 2.00E-06 IRON HFE PROTEIN, HUMAN|TRANSFERRIN|HISTOCOMPATIBILITY ANTIGENS CLASS I|MEMBRANE PROTEINS Iron status biomarkers HPOID:0011031 DOID:2351 C intron GWASdb_drug X 117088056 rs2430212 T C rs2430212 2.00E-06 Iron status biomarkers HPOID:0011031 DOID:2351 C intron 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 rs4825557 X 117240512 117240512 intronic 0.496211 0.304333612521791 GWAS of prostate cancer rs6603347 X 117057124 117057124 intronic 0.456194 0.340850430992793 GWAS of prostate cancer rs6603352 X 117078747 117078747 intronic 0.412863 0.384194036030217 GWAS of prostate cancer rs2430212 X 117088056 117088056 intronic 0.156055 0.806722311986651

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000003096.13 KLHL13 300655