Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171426 single nucleotide variant NM_015525.3(IBTK):c.3506A>T (p.Asn1169Ile) 193921029 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 6 82191142 82191142 T A 171426 single nucleotide variant NM_015525.3(IBTK):c.3506A>T (p.Asn1169Ile) 193921029 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 6 82900859 82900859 T 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 6 82900811 rs9449444 G A rs9449444 2.09E-05 Coronary heart disease HPOID:0001677 DOID:3393 G missense GWASdb_trait 6 82908034 rs4706937 C T rs4706937 9.86E-04 Bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 6 82927491 rs2273194 C T rs2273194 1.54E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 6 82933309 rs9361904 C T rs9361904 0.0000795 post-traumatic stress disorder HPOID:0100851 DOID:2055 C cds-synon GWASdb_trait 6 82933309 rs9361904 C T rs9361904 7.95E-05 Schizophrenia HPOID:0100753 DOID:5419 C cds-synon GWASdb_trait 6 82933309 rs9361904 C T rs9361904 1.54E-05 Coronary heart disease HPOID:0001677 DOID:3393 C cds-synon GWASdb_trait 6 82946661 rs6939987 G A rs6939987 1.54E-05 Coronary heart disease HPOID:0001677 DOID:3393 A intron GWASdb_trait 6 82950899 rs9294253 C T rs9294253 6.21E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait 6 82954394 rs9344262 C T rs9344262 9.77E-05 Coronary heart disease HPOID:0001677 DOID:3393 C intron GWASdb_trait