Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 198673 copy number loss NC_000003.11:g.(?_73524387)_(73613399_?)del -1 - 3 73524387 73613399 na na 204614 single nucleotide variant NM_015009.2(PDZRN3):c.820G>A (p.Asp274Asn) 748809996 MedGen:C0036346 3 73602452 73602452 C T 204614 single nucleotide variant NM_015009.2(PDZRN3):c.820G>A (p.Asp274Asn) 748809996 MedGen:C0036346 3 73651603 73651603 C 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 3 73450198 rs3816831 G A rs3816831 3.79E-04 Alcohol dependence HPOID:0000707 DOID:0050741 C intron GWASdb_trait 3 73476665 rs13063715 T C rs13063715 1.00E-04 Prostate cancer HPOID:0012125 DOID:10283 T intron GWASdb_trait 3 73489259 rs9883532 A G rs9883532 3.31E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 3 73520059 rs6549543 A G rs6549543 7.80E-06 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 3 73540618 rs4557101 T C rs4557101 4.00E-06 QT interval HPOID:0012232|HPOID:0001657 DOID:10273|DOID:2843 T intron GWASdb_trait 3 73548335 rs12632755 C T rs12632755 4.20E-04 Alcohol dependence HPOID:0000707 DOID:0050741 C intron GWASdb_trait 3 73548335 rs12632755 C T rs12632755 5.60E-04 Alcohol dependence HPOID:0000707 DOID:0050741 C intron GWASdb_trait 3 73548335 rs12632755 C T rs12632755 7.97E-04 Myocardial Infarction HPOID:0001658 DOID:5844 C intron GWASdb_trait 3 73548400 rs12632758 C T rs12632758 4.90E-04 Alcohol dependence HPOID:0000707 DOID:0050741 C intron GWASdb_trait 3 73548400 rs12632758 C T rs12632758 6.50E-04 Alcohol dependence HPOID:0000707 DOID:0050741 C intron GWASdb_trait 3 73601210 rs9842067 A G rs9842067 9.43E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 3 73619561 rs11128347 G C rs11128347 6.00E-07 Dialysis-related mortality HPOID:0000819 DOID:783|DOID:9352 G intron GWASdb_trait 3 73636020 rs9830956 G A rs9830956 5.11E-04 Prostate cancer mortality HPOID:0012125 DOID:10283 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000121440.14 PDZRN3 609729