Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 160423 copy number loss GRCh38/hg38 1q25.1(chr1:173938666-174111110)x1 -1 - 1 173907804 174080248 na na 160423 copy number loss GRCh38/hg38 1q25.1(chr1:173938666-174111110)x1 -1 - 1 173938666 174111110 na na 160423 copy number loss GRCh38/hg38 1q25.1(chr1:173938666-174111110)x1 -1 - 1 172174427 172346871 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 1 173961992 rs10912711 T C rs10912711 8.37E-04 Multiple complex diseases HPOID:0000118 NA T cds-synon 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 rs10798301 1 173949332 173949332 intronic 0.897298 0.0470633002529554 GWAS of prostate cancer rs1884994 1 173950282 173950282 intronic 0.187165 0.727775361409947 GWAS of prostate cancer rs11579488 1 173941617 173941617 intronic 0.000635 3.19722627470802

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000135870.11 RC3H1 609424