Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 215642 duplication NM_133368.2(RSPRY1):c.1279dupA (p.Thr427Asnfs) 864309651 MedGen:CN234661,OMIM:616723 16 57230716 57230716 A AA 215642 duplication NM_133368.2(RSPRY1):c.1279dupA (p.Thr427Asnfs) 864309651 MedGen:CN234661,OMIM:616723 16 57264628 57264628 A AA 215643 single nucleotide variant NM_133368.2(RSPRY1):c.121G>T (p.Gly41Cys) 864309652 MedGen:CN234661,OMIM:616723 16 57204779 57204779 G T 215643 single nucleotide variant NM_133368.2(RSPRY1):c.121G>T (p.Gly41Cys) 864309652 MedGen:CN234661,OMIM:616723 16 57238691 57238691 G 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 16 57248479 rs715040 G T rs715040 1.69E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000159579.13 RSPRY1 616585