Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 160390 copy number gain GRCh38/hg38 22q11.21(chr22:19329832-19332293)x3 -1 - 22 19329832 19332293 na na 160390 copy number gain GRCh38/hg38 22q11.21(chr22:19329832-19332293)x3 -1 - 22 17697355 17699816 na na 160390 copy number gain GRCh38/hg38 22q11.21(chr22:19329832-19332293)x3 -1 - 22 183049 185510 na na 164657 copy number gain GRCh38/hg38 22q11.21(chr22:19329591-19332293)x3 -1 - 22 19329591 19332293 na na 164657 copy number gain GRCh38/hg38 22q11.21(chr22:19329591-19332293)x3 -1 - 22 17697114 17699816 na na 164657 copy number gain GRCh38/hg38 22q11.21(chr22:19329591-19332293)x3 -1 - 22 182808 185510 na na 171667 single nucleotide variant NM_003325.3(HIRA):c.820G>A (p.Val274Met) 193920856 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 22 19394344 19394344 C T 171667 single nucleotide variant NM_003325.3(HIRA):c.820G>A (p.Val274Met) 193920856 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 22 19381867 19381867 C 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 22 19390804 rs11089274 T C rs11089274 8.53E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_drug 22 19413706 rs9618567 C T rs9618567 2.79E-05 INTERFERON ALFA-2B|PEGINTERFERON ALFA-2B POLYETHYLENE GLYCOLS|INTERFERON-ALPHA|IL28B PROTEIN, HUMAN|INTERLEUKINS|RECOMBINANT PROTEINS Response to hepatitis C treatment HPOID:0006562 DOID:1883 C intron GWASdb_drug 22 19413706 rs9618567 C T rs9618567 8.53E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_drug 22 19338201 rs885982 T C rs885982 5.43E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 22 19347730 rs2023639 C T rs2023639 2.89E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 22 19348199 rs737810 G A rs737810 2.10E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 22 19375500 rs3747062 G A,C,T rs3747062 3.68E-04 Smoking initiation HPOID:0000707 DOID:0050742 G intron GWASdb_trait 22 19390804 rs11089274 T C rs11089274 8.53E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 T intron GWASdb_trait 22 19399781 rs7286556 G A rs7286556 4.40E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 22 19413706 rs9618567 C T rs9618567 2.79E-05 Response to hepatitis C treatment HPOID:0006562 DOID:1883 C intron GWASdb_trait 22 19413706 rs9618567 C T rs9618567 8.53E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000100084.14 HIRA 600237