Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 155572 copy number gain GRCh38/hg38 1p36.22(chr1:9288962-9329867)x3 -1 - 1 9349021 9389926 na na 155572 copy number gain GRCh38/hg38 1p36.22(chr1:9288962-9329867)x3 -1 - 1 9288962 9329867 na na 155572 copy number gain GRCh38/hg38 1p36.22(chr1:9288962-9329867)x3 -1 - 1 9271608 9312513 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 1 9370911 rs630075 A G rs630075 7.00E-05 CHOLESTEROL CHOLESTEROL, LDL|APOLIPOPROTEIN C-III|TRIGLYCERIDES|CHOLESTEROL, HDL|LIPIDS|DIETARY FATS Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 C intron GWASdb_drug 1 9387311 rs4908842 T C rs4908842 5.90E-05 CHOLESTEROL CHOLESTEROL, LDL|APOLIPOPROTEIN C-III|TRIGLYCERIDES|CHOLESTEROL, HDL|LIPIDS|DIETARY FATS Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 T intron GWASdb_drug 1 9408959 rs11121380 A C rs11121380 5.00E-08 TOCILIZUMAB|METHOTREXATE INTERLEUKIN-6|ANTIRHEUMATIC AGENTS|ANTIBODIES, MONOCLONAL, HUMANIZED Response to tocilizumab in rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_drug 1 9411469 rs11121382 G C rs11121382 4.00E-06 IMMUNOGLOBULIN G MEX3C PROTEIN, HUMAN|ANTHRAX VACCINES|RNA-BINDING PROTEINS|SUPPRESSOR OF CYTOKINE SIGNALING PROTEINS|ANTIBODIES, BACTERIAL Immune response to anthrax vaccine HPOID:0005368 DOID:7427 G intron GWASdb_drug 1 9364634 rs1294028 A G rs1294028 2.00E-04 Schizophrenia HPOID:0100753 DOID:5419 C intron GWASdb_trait 1 9370911 rs630075 A G rs630075 7.00E-05 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 C intron GWASdb_trait 1 9382469 rs9660159 G A rs9660159 5.27E-04 Amyotrophic lateral sclerosis (sporadic) HPOID:0007354 DOID:332 G intron GWASdb_trait 1 9387311 rs4908842 T C rs4908842 5.90E-05 Triglycerides HPOID:0003119 DOID:3393|DOID:3146|DOID:2349 T intron GWASdb_trait 1 9394008 rs926247 T C rs926247 2.97E-04 Type 2 diabetes HPOID:0005978 DOID:9352 G intron GWASdb_trait 1 9402403 rs478103 T C rs478103 2.02E-05 Sudden cardiac arrest HPOID:0001645 DOID:3393 C intron GWASdb_trait 1 9408959 rs11121380 A C rs11121380 5.00E-08 Response to tocilizumab in rheumatoid arthritis HPOID:0001370 DOID:7148 A intron GWASdb_trait 1 9411469 rs11121382 G C rs11121382 4.09E-06 Parkinson's disease (motor and cognition) HPOID:0001300 DOID:14330 G intron GWASdb_trait 1 9411469 rs11121382 G C rs11121382 4.00E-06 Immune response to anthrax vaccine HPOID:0005368 DOID:7427 G intron GWASdb_trait 1 9417946 rs9435244 G A rs9435244 1.90E-05 Urinary metabolites HPOID:0000079 DOID:557 G intron GWASdb_trait 1 9419290 rs9435245 T C rs9435245 2.80E-06 Urinary metabolites HPOID:0000079 DOID:557 T 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 rs552230 1 9422875 9422875 intronic 0.917929 0.037190909322389505 GWAS of prostate cancer rs9435245 1 9419290 9419290 intronic 0.897912 0.0467662243428543 GWAS of prostate cancer rs1569422 1 9387444 9387444 intronic 0.876027 0.057482508249377104 GWAS of prostate cancer rs1299374 1 9412408 9412408 intronic 0.875378 0.0578043722747239 GWAS of prostate cancer rs629524 1 9371099 9371099 intronic 0.830335 0.0807466554568491 GWAS of prostate cancer rs4908842 1 9387311 9387311 intronic 0.709033 0.149333551298764 GWAS of prostate cancer rs1294028 1 9364634 9364634 intronic 0.68063 0.167088912502451 GWAS of prostate cancer rs4908851 1 9412787 9412787 intronic 0.675326 0.170486529653188 GWAS of prostate cancer rs2075972 1 9406979 9406979 intronic 0.634365 0.197660786482042 GWAS of prostate cancer rs525476 1 9375586 9375586 intronic 0.619045 0.2082777798307 GWAS of prostate cancer rs11121384 1 9413646 9413646 intronic 0.588743 0.230074243479941 GWAS of prostate cancer rs4908853 1 9420502 9420502 intronic 0.475454 0.322891494525824 GWAS of prostate cancer rs1294046 1 9379693 9379693 intronic 0.411309 0.385831787433267 GWAS of prostate cancer rs2275457 1 9427869 9427869 UTR3 0.361897 0.441415017026771 GWAS of prostate cancer rs2075973 1 9355897 9355897 intronic 0.302798 0.518846997705097

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000171621.13 SPSB1 611657