Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 215498 deletion NM_006154.3(NEDD4):c.120-6delT 10718511 MedGen:CN169374 15 56243793 56243793 A - 215498 deletion NM_006154.3(NEDD4):c.120-6delT 10718511 MedGen:CN169374 15 55951595 55951595 A -

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 15 56192861 rs12916104 C T rs12916104 8.95E-05 IMMUNOGLOBULIN G MEX3C PROTEIN, HUMAN|ANTHRAX VACCINES|RNA-BINDING PROTEINS|SUPPRESSOR OF CYTOKINE SIGNALING PROTEINS|ANTIBODIES, BACTERIAL Immune response to anthrax vaccine HPOID:0005368 DOID:7427 T intron GWASdb_drug 15 56139153 rs2288346 T C rs2288346 1.57E-04 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 15 56161609 rs1912401 G A rs1912401 8.61E-05 Smoking initiation HPOID:0000707 DOID:0050742 A intron GWASdb_trait 15 56172652 rs2414451 T G rs2414451 1.34E-04 Smoking initiation HPOID:0000707 DOID:0050742 G intron GWASdb_trait 15 56188171 rs10518825 C T rs10518825 4.80E-05 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 15 56192861 rs12916104 C T rs12916104 8.95E-05 Parkinson's disease (motor and cognition) HPOID:0001300 DOID:14330 T intron GWASdb_trait 15 56192861 rs12916104 C T rs12916104 8.95E-05 Immune response to anthrax vaccine HPOID:0005368 DOID:7427 T intron GWASdb_trait 15 56194877 rs8032158 T C rs8032158 6.00E-13 Keloid HPOID:0010562 DOID:854 T intron GWASdb_trait 15 56199712 rs10518828 C A rs10518828 5.90E-04 Heart Failure HPOID:0001635 DOID:6000 A intron GWASdb_trait 15 56210929 rs17819300 A G rs17819300 1.00E-10 Brain connectivity HPOID:0007319 DOID:0060052|DOID:2468|DOID:1289 A intron GWASdb_trait 15 56263532 rs7497861 C G rs7497861 7.53E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000069869.15 NEDD4 602278