Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 22130 single nucleotide variant NM_013324.5(CISH):c.-524T>A 414171 MedGen:C3280647,OMIM:614383;MedGen:C1970028,OMIM:611162 3 50649499 50649499 A T 22130 single nucleotide variant NM_013324.5(CISH):c.-524T>A 414171 MedGen:C3280647,OMIM:614383;MedGen:C1970028,OMIM:611162 3 50612068 50612068 A 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 50644134 rs175634 C T rs175634 0.000422 Height (Pygmy height) NA NA G UTR-3 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000114737.15 CISH 602441