Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 166889 duplication NC_000006.12:g.147348950_147402441dup53492 -1 Human Phenotype Ontology:HP:0001518,MedGen:C0024032 6 147348950 147402441 na na 166889 duplication NC_000006.12:g.147348950_147402441dup53492 -1 Human Phenotype Ontology:HP:0001518,MedGen:C0024032 6 147670086 147723577 na na 166890 duplication NC_000006.12:g.147364344_147402441dup38098 -1 MedGen:CN220684 6 147364344 147402441 na na 166890 duplication NC_000006.12:g.147364344_147402441dup38098 -1 MedGen:CN220684 6 147685480 147723577 na na

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 147590491 rs619175 C G rs619175 2.49E-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 6 147606007 rs614476 T A rs614476 6.45E-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 6 147635547 rs1039085 C T rs1039085 1.26E-06 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 6 147662541 rs1496031 G T rs1496031 1.49E-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 6 147670086 rs12191720 T C rs12191720 1.08E-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 6 147671833 rs1496033 C T rs1496033 5.38E-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 6 147671994 rs4896905 G A rs4896905 4.17E-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 6 147680359 rs9390459 A G rs9390459 1.00E-22 FACTOR VIII FACTOR VII|VON WILLEBRAND FACTOR Coagulation factor levels HPOID:0010989 DOID:2232 A cds-synon GWASdb_drug 6 147686274 rs9497759 G A rs9497759 1.05E-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 6 147531081 rs2786189 G T rs2786189 5.00E-06 Bronchopulmonary dysplasia HPOID:0010960 DOID:11650 A intron GWASdb_trait 6 147535305 rs1221638 G A rs1221638 7.80E-06 Bronchopulmonary dysplasia HPOID:0010960 DOID:11650 T intron GWASdb_trait 6 147549297 rs556493 A G rs556493 1.00E-06 Bronchopulmonary dysplasia HPOID:0010960 DOID:11650 T,C intron GWASdb_trait 6 147568513 rs6921496 T C rs6921496 3.61E-04 Response to alcohol consumption (flushing response) HPOID:0000707 DOID:1574|DOID:0050741 C intron GWASdb_trait 6 147570239 rs620715 G T rs620715 5.16E-04 Heart Failure HPOID:0001635 DOID:6000 A intron GWASdb_trait 6 147590491 rs619175 C G rs619175 2.49E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 G intron GWASdb_trait 6 147591022 rs597631 G A rs597631 8.06E-04 Heart Failure HPOID:0001635 DOID:6000 T intron GWASdb_trait 6 147606007 rs614476 T A rs614476 6.45E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_trait 6 147635413 rs1039084 A G rs1039084 3.86E-04 Heart Failure HPOID:0001635 DOID:6000 A missense GWASdb_trait 6 147635547 rs1039085 C T rs1039085 1.26E-06 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_trait 6 147635547 rs1039085 C T rs1039085 5.39E-05 Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel) HPOID:0001875|HPOID:0001882 DOID:1227 T intron GWASdb_trait 6 147639534 rs9373522 C T rs9373522 7.40E-06 Bronchopulmonary dysplasia HPOID:0010960 DOID:11650 C intron GWASdb_trait 6 147662541 rs1496031 G T rs1496031 1.49E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_trait 6 147670086 rs12191720 T C rs12191720 1.08E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_trait 6 147670086 rs12191720 T C rs12191720 4.10E-06 Bronchopulmonary dysplasia HPOID:0010960 DOID:11650 T intron GWASdb_trait 6 147671833 rs1496033 C T rs1496033 5.38E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 T intron GWASdb_trait 6 147671994 rs4896905 G A rs4896905 4.17E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_trait 6 147671994 rs4896905 G A rs4896905 3.22E-05 Tuberculosis HPOID:0011275 DOID:399 A intron GWASdb_trait 6 147680359 rs9390459 A G rs9390459 1.00E-22 Coagulation factor levels HPOID:0010989 DOID:2232 A cds-synon GWASdb_trait 6 147680359 rs9390459 A G rs9390459 2.10E-04 Heart Failure HPOID:0001635 DOID:6000 A cds-synon GWASdb_trait 6 147686274 rs9497759 G A rs9497759 1.05E-05 Response to platinum-based chemotherapy in small-cell lung cancer HPOID:0100526 DOID:5409 A intron GWASdb_trait 6 147701133 rs9373523 T G rs9373523 1.00E-06 Tuberculosis HPOID:0011275 DOID:399 G intron GWASdb_trait 6 147703299 rs9399599 A T rs9399599 3.00E-14 Plasma plasminogen activator levels HPOID:0005978|HPOID:0001677 DOID:5844 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000164506.14 STXBP5 604586