Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 139010 insertion NM_003745.1(SOCS1):c.139_140insTCCCGG (p.Pro46_Ala47insValPro) 587778690 MedGen:CN169374 16 11349196 11349197 - CCGGGA 139010 insertion NM_003745.1(SOCS1):c.139_140insTCCCGG (p.Pro46_Ala47insValPro) 587778690 MedGen:CN169374 16 11255339 11255340 - CCGGGA 139011 deletion NM_003745.1(SOCS1):c.144_149delGGCCCC (p.Ala49_Pro50del) 587778691 MedGen:CN169374 16 11349187 11349192 GGGGCC - 139011 deletion NM_003745.1(SOCS1):c.144_149delGGCCCC (p.Ala49_Pro50del) 587778691 MedGen:CN169374 16 11255330 11255335 GGGGCC - 139012 single nucleotide variant NM_003745.1(SOCS1):c.16C>G (p.Gln6Glu) 587778692 MedGen:CN169374 16 11349320 11349320 G C 139012 single nucleotide variant NM_003745.1(SOCS1):c.16C>G (p.Gln6Glu) 587778692 MedGen:CN169374 16 11255463 11255463 G C 139013 single nucleotide variant NM_003745.1(SOCS1):c.398G>C (p.Gly133Ala) 587778693 MedGen:CN169374 16 11348938 11348938 C G 139013 single nucleotide variant NM_003745.1(SOCS1):c.398G>C (p.Gly133Ala) 587778693 MedGen:CN169374 16 11255081 11255081 C G 139014 single nucleotide variant NM_003745.1(SOCS1):c.630G>C (p.Gln210His) 11549428 MedGen:CN169374 16 11348706 11348706 C G 139014 single nucleotide variant NM_003745.1(SOCS1):c.630G>C (p.Gln210His) 11549428 MedGen:CN169374 16 11254849 11254849 C G

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 11349374 rs188754154 T A rs188754154 0.000000392 Primary biliary cirrhosis HPOID:0002613 DOID:12236 T UTR-5 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000185338.4 SOCS1 603597