Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 223058 single nucleotide variant NM_001144.5(AMFR):c.1786C>T (p.Arg596Cys) 869025244 MedGen:C1527349 16 56396967 56396967 G A 223058 single nucleotide variant NM_001144.5(AMFR):c.1786C>T (p.Arg596Cys) 869025244 MedGen:C1527349 16 56363055 56363055 G 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 16 56396486 rs4924 C T rs4924 2.00E-05 Rheumatoid arthritis HPOID:0001370 DOID:7148 G UTR-3 GWASdb_trait 16 56399514 rs1382359 G A rs1382359 8.65E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 16 56399835 rs2617848 T C rs2617848 8.65E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 16 56400847 rs2241956 T C rs2241956 8.65E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 16 56401294 rs2241957 T C rs2241957 8.65E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 16 56403899 rs2587866 C T rs2587866 8.57E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 16 56406926 rs2587869 G A rs2587869 8.57E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 16 56412526 rs2587871 T C rs2587871 9.05E-05 Serum metabolites HPOID:0011111 NA A intron GWASdb_trait 16 56412526 rs2587871 T C rs2587871 8.57E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 16 56412734 rs2587873 C G rs2587873 8.32E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 16 56417047 rs2440467 T C rs2440467 8.32E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 16 56420594 rs2440468 G A rs2440468 2.00E-05 Rheumatoid arthritis HPOID:0001370 DOID:7148 G intron GWASdb_trait 16 56421427 rs2432538 A G rs2432538 7.49E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 16 56434742 rs2550309 G A rs2550309 7.49E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 16 56441253 rs2966206 G A rs2966206 7.49E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 16 56444439 rs7203090 C T rs7203090 7.49E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 16 56445999 rs7187883 C A rs7187883 7.06E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 16 56446612 rs2966205 C T rs2966205 7.06E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 16 56453981 rs6499837 T C rs6499837 6.79E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000159461.14 AMFR 603243