USP48
Disease associated variation - ClinVar
Allele IDTypeNameRS#dbSNPPhenotype IDsChromosomeStartStopReferenceAlternate
171317single nucleotide variantNM_032236.6(USP48):c.1243A>G (p.Met415Val)193921025MedGen:C0376358,OMIM:176807,SNOMED CT:C037635812172976121729761TC
171317single nucleotide variantNM_032236.6(USP48):c.1243A>G (p.Met415Val)193921025MedGen:C0376358,OMIM:176807,SNOMED CT:C037635812205625422056254TC
Disease associated variation - GWASdb
ChrPosSNP ID(dbSNP 142)RefAltOri SNP IDP-valueDrug NameDrug AnnoGWAS TraitHPO IDDO IDAATypeTrait or Drug
122040294rs333188TCrs3331889.43E-05Non-alcoholic fatty liver disease histology (other)HPOID:0001397|HPOID:0006561DOID:9452AintronGWASdb_trait
122052387rs7554400TCrs75544001.58E-05Cognitive performanceHPOID:0100543DOID:1561TintronGWASdb_trait
122055917rs6664218AGrs66642181.29E-05Cognitive performanceHPOID:0100543DOID:1561GintronGWASdb_trait
122080775rs333204AGrs3332043.00E-05Cognitive performanceHPOID:0100543DOID:1561TintronGWASdb_trait
122081011rs541552TCrs5415523.00E-05Cognitive performanceHPOID:0100543DOID:1561GintronGWASdb_trait
122088841rs6667223GArs66672233.74E-05Lymphocyte countsHPOID:0004332|HPOID:0002665DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287GintronGWASdb_trait
Disease associated variation - GWAS Central
Study NameSource Marker AccessionChromosomeMarker StartMarker StopAllelesGene SectionP-value-log(p-value)
GWAS of prostate cancerrs33318812204029422040294intronic0.8215170.08538344509586769
GWAS of prostate cancerrs82939612200379322003793downstream0.7364620.13284965698981102
GWAS of prostate cancerrs666722312208884122088841intronic0.6990190.155511019557592
GWAS of prostate cancerrs376713312202015222020152intronic0.6489050.18781887946423298
GWAS of prostate cancerrs88472612211041822110418upstream0.6187070.208514970380232
GWAS of prostate cancerrs755440012205238722052387intronic0.6031870.219548027034012
GWAS of prostate cancerrs666421812205591722055917intronic0.5994870.222220230228985
GWAS of prostate cancerrs997050112210677522106775intronic0.5541850.25634523334518
GWAS of prostate cancerrs1745743412202019422020194intronic0.4743750.32387820676044404
GWAS of prostate cancerrs82942012201356122013561intronic0.3806590.419463897634415
GWAS of prostate cancerrs101810212204107322041073intronic0.2022630.6940835555163111
GWAS of prostate cancerrs82937212203018922030189intronic0.198090.703137448007327
GWAS of prostate cancerrs33317012203394422033944intronic0.1835580.736226682910783
GWAS of prostate cancerrs33320412208077522080775intronic0.1671890.776792299842301
GWAS of prostate cancerrs54155212208101122081011intronic0.1671890.776792299842301
GWAS of prostate cancerrs1240464812200879822008798intronic0.0928751.03210117323137
GWAS of prostate cancerrs376713212200672122006721intronic0.0123561.90812210037059