Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 161199 copy number gain GRCh38/hg38 1q44(chr1:247870345-247871020)x3 -1 - 1 248033647 248034322 na na 161199 copy number gain GRCh38/hg38 1q44(chr1:247870345-247871020)x3 -1 - 1 247870345 247871020 na na 161199 copy number gain GRCh38/hg38 1q44(chr1:247870345-247871020)x3 -1 - 1 246100270 246100945 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 248039294 rs1339847 G A rs1339847 1.99E-04 Sensory disturbances after bilateral sagittal split ramus osteotomy HPOID:0003401 DOID:1491|DOID:0050155 G missense GWASdb_trait 1 248039451 rs3811444 C T rs3811444 6.00E-09 Platelet counts HPOID:0011873 DOID:74|DOID:526|DOID:3393 C missense GWASdb_trait 1 248039451 rs3811444 C T rs3811444 5.00E-10 Red blood cell traits HPOID:0001877 DOID:74 C missense GWASdb_trait 1 248040104 rs4925753 C T rs4925753 5.36E-05 Hypertension HPOID:0000822 DOID:10763 C UTR-3 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 rs6657427 1 248032168 248032168 intronic 0.968621 0.0138461195500049 GWAS of prostate cancer rs3737277 1 248023966 248023966 exonic 0.405567 0.391937389722441 GWAS of prostate cancer rs1339847 1 248039294 248039294 exonic 0.301581 0.5205960230644701 GWAS of prostate cancer rs3811444 1 248039451 248039451 exonic 0.24365 0.6132335842826859 GWAS of prostate cancer rs3811445 1 248039713 248039713 exonic 0.161167 0.792723878070998