Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171665 single nucleotide variant NM_005441.2(CHAF1B):c.862A>G (p.Thr288Ala) 193921141 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 21 36409408 36409408 A G 171665 single nucleotide variant NM_005441.2(CHAF1B):c.862A>G (p.Thr288Ala) 193921141 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 21 37781706 37781706 A G 181465 single nucleotide variant NM_005441.2(CHAF1B):c.496A>G (p.Ile166Val) 140630794 Human Phenotype Ontology:HP:0007018,MedGen:CN006126;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001249,MedGen:C3714756 21 36397429 36397429 A G 181465 single nucleotide variant NM_005441.2(CHAF1B):c.496A>G (p.Ile166Val) 140630794 Human Phenotype Ontology:HP:0007018,MedGen:CN006126;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0001249,MedGen:C3714756 21 37769727 37769727 A 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 10 28347988 rs2252206 A G rs2252206 0.000795 METHIONINE CASPASE 1|CASPASE 9|CASP9 PROTEIN, HUMAN|5'-METHYLTHIOADENOSINE|APIP PROTEIN, HUMAN|DEOXYADENOSINES|THIONUCLEOSIDES|APOPTOSIS REGULATORY PROTEINS Salmonella-induced pyroptosis NA NA G intron GWASdb_drug 10 28353751 rs7909706 T C rs7909706 6.30E-05 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_drug 10 28391617 rs4749306 C G rs4749306 1.49E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_drug 10 28393824 rs10826398 G T rs10826398 1.67E-05 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 G intron GWASdb_drug 10 28424177 rs4317882 G A rs4317882 7.51E-05 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 G intron GWASdb_drug 10 28432044 rs4506531 C G rs4506531 7.51E-05 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_drug 10 28450599 rs2985523 T G rs2985523 3.16E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_drug 10 28470732 rs11006913 A G rs11006913 6.39E-05 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_drug 10 28475495 rs2985535 C T rs2985535 2.75E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 G intron GWASdb_drug 10 28476148 rs1937809 C T rs1937809 2.75E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_drug 10 28489647 rs7922685 C G rs7922685 1.02E-04 CISPLATIN|ETOPOSIDE|CARBOPLATIN R-SNARE PROTEINS|PLATINUM|STXBP5 PROTEIN, HUMAN|NERVE TISSUE PROTEINS Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_drug 10 28541472 rs1870097 T C rs1870097 8.31E-04 ATORVASTATIN SERINE ENDOPEPTIDASES|PYRROLES|PCSK9 PROTEIN, HUMAN|HEPTANOIC ACIDS|APOLIPOPROTEINS E|PROPROTEIN CONVERTASES Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 A intron GWASdb_drug 10 28346035 rs7920857 G C rs7920857 3.27E-04 Insulin resistance HPOID:0000855 DOID:9352 G intron GWASdb_trait 10 28347988 rs2252206 A G rs2252206 0.000795 Salmonella-induced pyroptosis NA NA G intron GWASdb_trait 10 28353751 rs7909706 T C rs7909706 6.30E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_trait 10 28373644 rs4749301 T C rs4749301 5.80E-04 Alcohol dependence HPOID:0000707 DOID:0050741 T intron GWASdb_trait 10 28382933 rs927675 A C rs927675 2.00E-06 MRI atrophy measures HPOID:0001626 DOID:10652 T intron GWASdb_trait 10 28388150 rs10763642 G A rs10763642 7.00E-06 Obesity-related traits HPOID:0001513 DOID:9970 G intron GWASdb_trait 10 28391617 rs4749306 C G rs4749306 1.49E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_trait 10 28393824 rs10826398 G T rs10826398 9.81E-05 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 10 28393824 rs10826398 G T rs10826398 1.67E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 G intron GWASdb_trait 10 28400835 rs12776665 C A rs12776665 2.57E-06 Total ventricular volume HPOID:0001627 DOID:10652 C intron GWASdb_trait 10 28415164 rs2490062 A T rs2490062 0.0000612 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 T intron GWASdb_trait 10 28424177 rs4317882 G A rs4317882 7.51E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 G intron GWASdb_trait 10 28432044 rs4506531 C G rs4506531 9.96E-04 Type 2 diabetes HPOID:0005978 DOID:9352 C intron GWASdb_trait 10 28432044 rs4506531 C G rs4506531 7.51E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_trait 10 28438930 rs147999424 G A rs147999424 0.000038 Breast cancer (ER positive) HPOID:0003002 DOID:1612 G missense GWASdb_trait 10 28442841 rs9299597 G A rs9299597 0.000634026 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 G intron GWASdb_trait 10 28446745 rs2985532 T C rs2985532 0.0000556 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 T intron GWASdb_trait 10 28449974 rs7081378 G A rs7081378 8.74E-04 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 10 28450599 rs2985523 T G rs2985523 3.16E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_trait 10 28450599 rs2985523 T G rs2985523 0.0000632 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 A intron GWASdb_trait 10 28451249 rs12254584 C A rs12254584 4.04E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 10 28451289 rs2985522 T C rs2985522 0.0000343 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 A intron GWASdb_trait 10 28451524 rs1626856 T A rs1626856 0.0000665 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 A intron GWASdb_trait 10 28452867 rs1781832 T C rs1781832 0.0000677 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 C intron GWASdb_trait 10 28453046 rs2763316 A G rs2763316 0.0000684 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 A intron GWASdb_trait 10 28453145 rs1781833 G C rs1781833 0.0000685 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 G intron GWASdb_trait 10 28453225 rs1781834 T C rs1781834 0.0000684 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 C intron GWASdb_trait 10 28453354 rs1781835 T C rs1781835 0.0000684 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 T intron GWASdb_trait 10 28453677 rs1748484 T A rs1748484 0.000074 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 T intron GWASdb_trait 10 28453966 rs2801843 A C,G,T rs2801843 0.0000895 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 C intron GWASdb_trait 10 28453981 rs2801844 G T rs2801844 0.0000688 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 T intron GWASdb_trait 10 28454152 rs2801845 A T rs2801845 8.20E-04 Multiple complex diseases HPOID:0000118 NA T intron GWASdb_trait 10 28454533 rs7085245 T G rs7085245 3.52E-04 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 10 28454570 rs7101051 C A rs7101051 9.33E-04 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 10 28455529 rs2985517 T C rs2985517 0.0000673 Nonsyndromic striae distensae (stretch marks) HPOID:0001000 DOID:37 A intron GWASdb_trait 10 28462933 rs2887214 T A rs2887214 3.55E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 10 28466013 rs7914949 T C rs7914949 2.00E-04 Multiple complex diseases HPOID:0000118 NA C intron GWASdb_trait 10 28466881 rs35494924 T C rs35494924 2.68E-06 Bone mineral density HPOID:0004348 DOID:0080011 T intron GWASdb_trait 10 28470732 rs11006913 A G rs11006913 6.39E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_trait 10 28475495 rs2985535 C T rs2985535 2.75E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 G intron GWASdb_trait 10 28476148 rs1937809 C T rs1937809 3.36E-04 Type 2 diabetes HPOID:0005978 DOID:9352 T intron GWASdb_trait 10 28476148 rs1937809 C T rs1937809 2.75E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_trait 10 28479942 rs3905706 C T rs3905706 2.00E-16 Bone mineral density HPOID:0004348 DOID:0080011 G intron GWASdb_trait 10 28479942 rs3905706 C T rs3905706 8.00E-06 Bone mineral density HPOID:0004348 DOID:0080011 G intron GWASdb_trait 10 28479942 rs3905706 C T rs3905706 2.93E-06 Bone mineral density (paediatric, skull) HPOID:0004348 DOID:0080011 G intron GWASdb_trait 10 28479942 rs3905706 C T rs3905706 3.00E-06 Bone mineral density (paediatric, skull) HPOID:0004348 DOID:0080011 G intron GWASdb_trait 10 28489647 rs7922685 C G rs7922685 1.02E-04 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 C intron GWASdb_trait 10 28504944 rs11006923 T C rs11006923 9.00E-06 Alzheimer's disease HPOID:0002511 DOID:10652 T intron GWASdb_trait 10 28514249 rs11006928 A T rs11006928 1.04E-05 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 10 28515799 rs17831816 G A rs17831816 9.19E-06 Alzheimer's disease HPOID:0002511 DOID:10652 G intron GWASdb_trait 10 28540477 rs11006950 C G rs11006950 1.02E-04 Alzheimer's disease HPOID:0002511 DOID:10652 C intron GWASdb_trait 10 28541472 rs1870097 T C rs1870097 8.31E-04 Response to statin treatment (atorvastatin), change in cholesterol levels HPOID:0001626 DOID:1287 A intron GWASdb_trait 10 28544070 rs11006958 A C rs11006958 1.32E-05 Alzheimer's disease HPOID:0002511 DOID:10652 A intron GWASdb_trait 10 28560451 rs7086943 T C rs7086943 6.14E-04 Insulin resistance HPOID:0000855 DOID:9352 T intron GWASdb_trait 10 28567807 rs7905490 C T rs7905490 3.22E-04 Acute lung injury HPOID:0002088 DOID:850 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000159259.7 CHAF1B 601245