Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 166170 deletion NM_002899.3(RBP1):c.387_400delTGGGAAGGAGTTTG (p.Lys131Glyfs) 587783020 MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:C0339527 3 139538819 139538832 CAAACTCCTTCCCA - 166170 deletion NM_002899.3(RBP1):c.387_400delTGGGAAGGAGTTTG (p.Lys131Glyfs) 587783020 MedGen:C0339527,Orphanet:ORPHA65,SNOMED CT:C0339527 3 139257661 139257674 CAAACTCCTTCCCA -

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 139237008 rs167187 G A rs167187 6.21E-05 Schizophrenia(age at onset) HPOID:0100753 DOID:5419 G intron GWASdb_trait 3 139241371 rs295490 C T rs295490 8.00E-06 PR interval in Tripanosoma cruzi seropositivity HPOID:0001638 DOID:12140|DOID:0050700 T intron GWASdb_trait 17 56380471 rs6503858 T C rs6503858 8.72E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 17 56380471 rs6503858 T C rs6503858 0.000559 fMRI brain tests in schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 17 56389516 rs144106922 C T rs144106922 0.000071 Breast cancer HPOID:0003002 DOID:1612 C missense GWASdb_trait 17 56393714 rs2074630 G A rs2074630 8.26E-04 White matter integrity HPOID:0002500 DOID:3312|DOID:936 C intron GWASdb_trait 17 56405858 rs2680691 T C rs2680691 2.16E-04 Lung function (forced expiratory volume in 1 second) HPOID:0002088 DOID:850 A UTR-5 GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000005379.15 TSPOAP1 610764