Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171307 deletion NM_014458.3(KLHL20):c.254delT (p.Leu86Cysfs) 193920902 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 1 173733943 173733943 T - 171307 deletion NM_014458.3(KLHL20):c.254delT (p.Leu86Cysfs) 193920902 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 1 173703082 173703082 T -

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 173689891 rs10912671 A G rs10912671 1.87E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 1 173722545 rs6425256 A G rs6425256 5.62E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 1 173725101 rs16846395 G A rs16846395 1.28E-05 Multiple complex diseases HPOID:0000118 NA G cds-synon GWASdb_trait 1 173725376 rs16846398 C G rs16846398 5.65E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 1 173735378 rs7536773 T C rs7536773 1.44E-05 Age-related macular degeneration HPOID:0007868 DOID:10871 C cds-synon GWASdb_trait 1 173754505 rs6692452 A G rs6692452 1.44E-05 Age-related macular degeneration HPOID:0007868 DOID:10871 G 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 rs11578058 1 173713130 173713130 intronic 0.917494 0.0373967671580656 GWAS of prostate cancer rs2273366 1 173724942 173724942 intronic 0.412153 0.384941534644241