Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 27990 deletion NM_000541.4(SAG):c.926delA (p.Asn309Thrfs) 587776778 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:C3151061,OMIM:613758 2 234243727 234243727 A - 27990 deletion NM_000541.4(SAG):c.926delA (p.Asn309Thrfs) 587776778 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:C3151061,OMIM:613758 2 233335081 233335081 A - 50332 single nucleotide variant NM_000541.4(SAG):c.577C>T (p.Arg193Ter) 201153410 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122 2 233328542 233328542 C T 50335 single nucleotide variant NM_000541.4(SAG):c.916G>T (p.Glu306Ter) 397514682 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122 2 234243717 234243717 G T 50332 single nucleotide variant NM_000541.4(SAG):c.577C>T (p.Arg193Ter) 201153410 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122 2 234237188 234237188 C T 50334 single nucleotide variant NM_000541.4(SAG):c.874C>T (p.Arg292Ter) 397514681 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122 2 234243675 234243675 C T 50334 single nucleotide variant NM_000541.4(SAG):c.874C>T (p.Arg292Ter) 397514681 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122 2 233335029 233335029 C T 50335 single nucleotide variant NM_000541.4(SAG):c.916G>T (p.Glu306Ter) 397514682 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122 2 233335071 233335071 G T 108164 single nucleotide variant NM_000541.4(SAG):c.523C>T (p.Arg175Ter) 587777209 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122 2 234237134 234237134 C T 108164 single nucleotide variant NM_000541.4(SAG):c.523C>T (p.Arg175Ter) 587777209 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122 2 233328488 233328488 C T 152802 single nucleotide variant NM_000541.4(SAG):c.250C>T (p.Arg84Cys) 115857633 MedGen:CN221809;MedGen:CN169374 2 234229344 234229344 C T 152802 single nucleotide variant NM_000541.4(SAG):c.250C>T (p.Arg84Cys) 115857633 MedGen:CN221809;MedGen:CN169374 2 233320698 233320698 C T 177079 single nucleotide variant NM_000541.4(SAG):c.301G>A (p.Ala101Thr) 141521563 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 234229395 234229395 G A 177079 single nucleotide variant NM_000541.4(SAG):c.301G>A (p.Ala101Thr) 141521563 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 233320749 233320749 G A 178038 single nucleotide variant NM_000541.4(SAG):c.375+11C>T 74356516 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 234229480 234229480 C T 178038 single nucleotide variant NM_000541.4(SAG):c.375+11C>T 74356516 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 233320834 233320834 C T 178039 single nucleotide variant NM_000541.4(SAG):c.436-18G>C 2304774 MedGen:CN169374 2 234235749 234235749 G C 178039 single nucleotide variant NM_000541.4(SAG):c.436-18G>C 2304774 MedGen:CN169374 2 233327103 233327103 G C 178040 single nucleotide variant NM_000541.4(SAG):c.468C>T (p.Phe156=) 375593027 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 234235799 234235799 C T 178040 single nucleotide variant NM_000541.4(SAG):c.468C>T (p.Phe156=) 375593027 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 233327153 233327153 C T 190978 single nucleotide variant NM_000541.4(SAG):c.875G>A (p.Arg292Gln) 554322769 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 234243676 234243676 G A 190978 single nucleotide variant NM_000541.4(SAG):c.875G>A (p.Arg292Gln) 554322769 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 233335030 233335030 G A 191768 single nucleotide variant NM_000541.4(SAG):c.1132G>A (p.Val378Ile) 200602069 MedGen:CN169374 2 234255472 234255472 G A 191768 single nucleotide variant NM_000541.4(SAG):c.1132G>A (p.Val378Ile) 200602069 MedGen:CN169374 2 233346826 233346826 G A 191769 single nucleotide variant NM_000541.4(SAG):c.1207G>A (p.Val403Ile) 1046974 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 234255547 234255547 G A 191769 single nucleotide variant NM_000541.4(SAG):c.1207G>A (p.Val403Ile) 1046974 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466;MedGen:CN169374 2 233346901 233346901 G A 193444 single nucleotide variant NM_000541.4(SAG):c.102C>G (p.Asp34Glu) 794727485 MedGen:CN169374 2 234224747 234224747 C G 193444 single nucleotide variant NM_000541.4(SAG):c.102C>G (p.Asp34Glu) 794727485 MedGen:CN169374 2 233316101 233316101 C G 268149 single nucleotide variant NM_000541.4(SAG):c.474A>G (p.Thr158=) 886042737 MedGen:CN169374 2 234235805 234235805 A G 268149 single nucleotide variant NM_000541.4(SAG):c.474A>G (p.Thr158=) 886042737 MedGen:CN169374 2 233327159 233327159 A G 285376 single nucleotide variant NM_000541.4(SAG):c.-11G>A 754551985 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233309179 233309179 G A 285376 single nucleotide variant NM_000541.4(SAG):c.-11G>A 754551985 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234217825 234217825 G A 285381 single nucleotide variant NM_000541.4(SAG):c.226A>G (p.Ile76Val) 7565275 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233320674 233320674 A G 285381 single nucleotide variant NM_000541.4(SAG):c.226A>G (p.Ile76Val) 7565275 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234229320 234229320 A G 285382 single nucleotide variant NM_000541.4(SAG):c.820C>T (p.Pro274Ser) 369789189 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234243621 234243621 C T 285382 single nucleotide variant NM_000541.4(SAG):c.820C>T (p.Pro274Ser) 369789189 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233334975 233334975 C T 285383 single nucleotide variant NM_000541.4(SAG):c.1167T>A (p.Asp389Glu) 199798289 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234255507 234255507 T A 285383 single nucleotide variant NM_000541.4(SAG):c.1167T>A (p.Asp389Glu) 199798289 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233346861 233346861 T A 285384 single nucleotide variant NM_000541.4(SAG):c.*7C>T 692 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234255565 234255565 C T 285384 single nucleotide variant NM_000541.4(SAG):c.*7C>T 692 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233346919 233346919 C T 285386 single nucleotide variant NM_000541.4(SAG):c.*89C>T 78338185 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234255647 234255647 C T 285386 single nucleotide variant NM_000541.4(SAG):c.*89C>T 78338185 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233347001 233347001 C T 285387 single nucleotide variant NM_000541.4(SAG):c.*98G>A 184255686 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234255656 234255656 G A 285387 single nucleotide variant NM_000541.4(SAG):c.*98G>A 184255686 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233347010 233347010 G A 286007 single nucleotide variant NM_000541.4(SAG):c.-331G>T 752812406 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233307720 233307720 G T 286007 single nucleotide variant NM_000541.4(SAG):c.-331G>T 752812406 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234216366 234216366 G T 286017 single nucleotide variant NM_000541.4(SAG):c.-278A>G 886055799 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233307773 233307773 A G 286017 single nucleotide variant NM_000541.4(SAG):c.-278A>G 886055799 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234216419 234216419 A G 286022 single nucleotide variant NM_000541.4(SAG):c.1208T>C (p.Val403Ala) 1046976 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234255548 234255548 T C 286022 single nucleotide variant NM_000541.4(SAG):c.1208T>C (p.Val403Ala) 1046976 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233346902 233346902 T C 288345 single nucleotide variant NM_000541.4(SAG):c.201C>T (p.Cys67=) 72976383 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233320649 233320649 C T 288345 single nucleotide variant NM_000541.4(SAG):c.201C>T (p.Cys67=) 72976383 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234229295 234229295 C T 288347 single nucleotide variant NM_000541.4(SAG):c.489C>T (p.Ala163=) 2304773 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234235820 234235820 C T 288347 single nucleotide variant NM_000541.4(SAG):c.489C>T (p.Ala163=) 2304773 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233327174 233327174 C T 288353 single nucleotide variant NM_000541.4(SAG):c.838A>G (p.Lys280Glu) 373986650 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234243639 234243639 A G 288353 single nucleotide variant NM_000541.4(SAG):c.838A>G (p.Lys280Glu) 373986650 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233334993 233334993 A G 288768 single nucleotide variant NM_000541.4(SAG):c.-223C>G 140569105 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233307828 233307828 C G 288768 single nucleotide variant NM_000541.4(SAG):c.-223C>G 140569105 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234216474 234216474 C G 288769 single nucleotide variant NM_000541.4(SAG):c.321G>C (p.Leu107=) 59676190 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233320769 233320769 G C 288769 single nucleotide variant NM_000541.4(SAG):c.321G>C (p.Leu107=) 59676190 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234229415 234229415 G C 288770 single nucleotide variant NM_000541.4(SAG):c.1047-13T>C 73995909 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234250904 234250904 T C 288770 single nucleotide variant NM_000541.4(SAG):c.1047-13T>C 73995909 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233342258 233342258 T C 288772 single nucleotide variant NM_000541.4(SAG):c.*90G>A 143418950 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 234255648 234255648 G A 288772 single nucleotide variant NM_000541.4(SAG):c.*90G>A 143418950 MedGen:C1306122,OMIM:258100,SNOMED CT:C1306122;MedGen:CN239466 2 233347002 233347002 G 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 2 234221935 rs3792104 G T rs3792104 1.68E-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 2 234235820 rs2304773 C T rs2304773 6.26E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 G cds-synon GWASdb_drug 2 234247508 rs13427703 C G rs13427703 1.42E-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 2 234221935 rs3792104 G T rs3792104 1.68E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_trait 2 234232722 rs11891546 T G rs11891546 2.60E-10 Bilirubin levels HPOID:0002904 DOID:2741 T,C intron GWASdb_trait 2 234235820 rs2304773 C T rs2304773 6.26E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 G cds-synon GWASdb_trait 2 234246264 rs880116 C T rs880116 4.00E-05 Bilirubin levels HPOID:0002904 DOID:2741 G intron GWASdb_trait 2 234246458 rs880114 T C rs880114 3.90E-05 Bilirubin levels HPOID:0002904 DOID:2741 A intron GWASdb_trait 2 234246994 rs3828305 A G rs3828305 3.90E-05 Bilirubin levels HPOID:0002904 DOID:2741 T intron GWASdb_trait 2 234247508 rs13427703 C G rs13427703 1.42E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 C intron GWASdb_trait 2 234247508 rs13427703 C G rs13427703 4.27E-04 Smoking initiation HPOID:0000707 DOID:0050742 C intron GWASdb_trait 2 234247627 rs2241874 T C rs2241874 1.87E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 2 234247924 rs2241873 G A rs2241873 2.08E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 2 234251322 rs3792091 T G rs3792091 2.30E-06 Bilirubin levels HPOID:0002904 DOID:2741 C intron GWASdb_trait 2 234255547 rs1046974 G A rs1046974 3.80E-08 Bilirubin levels HPOID:0002904 DOID:2741 A,G missense GWASdb_trait 3 141463298 rs16851720 A C rs16851720 9.00E-09 Hepatitis C induced liver fibrosis HPOID:0012115 DOID:1883 A intron GWASdb_trait 3 141463803 rs17195449 G T rs17195449 1.58E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait

Disease associated variation - GWAS Central Study Name Source Marker Accession Chromosome Marker Start Marker Stop Alleles Gene Section P-value -log(p-value) GWAS of prostate cancer rs745498 2 234238254 234238254 intronic 0.852258 0.0694289134319564

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000114125.13 RNF7 603863