Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171317 single nucleotide variant NM_032236.6(USP48):c.1243A>G (p.Met415Val) 193921025 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 1 21729761 21729761 T C 171317 single nucleotide variant NM_032236.6(USP48):c.1243A>G (p.Met415Val) 193921025 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 1 22056254 22056254 T C

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 22040294 rs333188 T C rs333188 9.43E-05 Non-alcoholic fatty liver disease histology (other) HPOID:0001397|HPOID:0006561 DOID:9452 A intron GWASdb_trait 1 22052387 rs7554400 T C rs7554400 1.58E-05 Cognitive performance HPOID:0100543 DOID:1561 T intron GWASdb_trait 1 22055917 rs6664218 A G rs6664218 1.29E-05 Cognitive performance HPOID:0100543 DOID:1561 G intron GWASdb_trait 1 22080775 rs333204 A G rs333204 3.00E-05 Cognitive performance HPOID:0100543 DOID:1561 T intron GWASdb_trait 1 22081011 rs541552 T C rs541552 3.00E-05 Cognitive performance HPOID:0100543 DOID:1561 G intron GWASdb_trait 1 22088841 rs6667223 G A rs6667223 3.74E-05 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 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 rs333188 1 22040294 22040294 intronic 0.821517 0.08538344509586769 GWAS of prostate cancer rs829396 1 22003793 22003793 downstream 0.736462 0.13284965698981102 GWAS of prostate cancer rs6667223 1 22088841 22088841 intronic 0.699019 0.155511019557592 GWAS of prostate cancer rs3767133 1 22020152 22020152 intronic 0.648905 0.18781887946423298 GWAS of prostate cancer rs884726 1 22110418 22110418 upstream 0.618707 0.208514970380232 GWAS of prostate cancer rs7554400 1 22052387 22052387 intronic 0.603187 0.219548027034012 GWAS of prostate cancer rs6664218 1 22055917 22055917 intronic 0.599487 0.222220230228985 GWAS of prostate cancer rs9970501 1 22106775 22106775 intronic 0.554185 0.25634523334518 GWAS of prostate cancer rs17457434 1 22020194 22020194 intronic 0.474375 0.32387820676044404 GWAS of prostate cancer rs829420 1 22013561 22013561 intronic 0.380659 0.419463897634415 GWAS of prostate cancer rs1018102 1 22041073 22041073 intronic 0.202263 0.6940835555163111 GWAS of prostate cancer rs829372 1 22030189 22030189 intronic 0.19809 0.703137448007327 GWAS of prostate cancer rs333170 1 22033944 22033944 intronic 0.183558 0.736226682910783 GWAS of prostate cancer rs333204 1 22080775 22080775 intronic 0.167189 0.776792299842301 GWAS of prostate cancer rs541552 1 22081011 22081011 intronic 0.167189 0.776792299842301 GWAS of prostate cancer rs12404648 1 22008798 22008798 intronic 0.092875 1.03210117323137 GWAS of prostate cancer rs3767132 1 22006721 22006721 intronic 0.012356 1.90812210037059