DPYS

dihydropyrimidinase

Summary

Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]

Known Variants176 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5559613718:105,391,678T/C—uncertain significance
rs7584967698:105,391,741T/A—uncertain significance
rs736994198:105,391,742A/T—benign
rs1463884358:105,391,881C/T—uncertain significance
rs5776622448:105,391,886A/G—uncertain significance
rs1424526648:105,391,938G/A—benign
rs7814570408:105,392,016T/A—uncertain significance
rs1512606938:105,392,021A/G—benign
rs3722576788:105,393,412C/T—uncertain significance
rs14324432578:105,393,432G/T—uncertain significance
rs12195412238:105,393,442T/G—uncertain significance
rs5615935148:105,393,495G/A—likely benign
rs18110257428:105,393,508T/G—uncertain significance
rs7466964828:105,393,514G/A—uncertain significance
rs1894489638:105,393,517C/T—pathogenic
rs1425747668:105,393,518G/A—pathogenic
rs1509488468:105,405,014G/A—uncertain significance
rs3695499538:105,405,019C/T—uncertain significance
rs7652744058:105,405,022T/G—uncertain significance
rs7518180268:105,405,031C/T—uncertain significance
rs617584448:105,405,032G/A—pathogenic
rs13174442648:105,405,037T/C—uncertain significance
rs3730704548:105,405,043T/C—uncertain significance
rs2012808718:105,405,062G/A—pathogenic
rs1133091698:105,405,088G/A—uncertain significance
rs25376881228:105,405,092C/T—uncertain significance
rs3776615748:105,405,104C/T—uncertain significance
rs754907738:105,405,105G/A—benign
rs21405211578:105,405,123G/C—likely benign
rs6726012928:105,405,148A/G—not provided
rs2676067738:105,405,152C/Tmissense variantpathogenic
rs3744760918:105,405,191C/T—uncertain significance
rs2676067748:105,436,475C/Amissense variantpathogenic
rs7815778938:105,436,488G/A—uncertain significance
rs7700632518:105,436,493C/T—pathogenic
rs18126463918:105,436,522A/T—likely benign
rs7675358968:105,436,540T/G—uncertain significance
rs7754795558:105,436,543A/G—likely benign
rs2012588238:105,436,573G/Tmissense variantpathogenic
rs3708146538:105,436,637A/C—benign
rs1925074708:105,436,664G/T—not provided
rs3713436348:105,440,170G/A—not provided
rs1384531688:105,440,199G/A—benign
rs1382825078:105,440,210C/T—uncertain significance
rs3738196508:105,440,211G/A—uncertain significance
rs1219649248:105,440,222A/Gmissense variantpathogenic
rs7694033928:105,440,228C/T—uncertain significance
rs7728584668:105,440,229G/A—likely benign
rs3769659728:105,440,236C/T—likely pathogenic
rs5595073798:105,440,237G/A—uncertain significance
rs350130108:105,440,238A/G—likely benign
rs25377702338:105,440,255C/A—uncertain significance
rs3695636708:105,440,260T/C—uncertain significance
rs1171045878:105,440,271G/C—benign
rs2014571908:105,440,273T/C—uncertain significance
rs12880220788:105,440,281T/C—uncertain significance
rs5309114378:105,440,290A/G—uncertain significance
rs1483186928:105,440,298C/T—benign
rs1219649238:105,440,299T/Cmissense variantpathogenic
rs25377707758:105,440,317C/A—likely pathogenic
rs7657275628:105,440,360A/G—likely benign
rs3715849368:105,440,364A/G—likely benign
rs2008474358:105,440,367C/T—likely benign
rs1486082468:105,441,753G/C—likely benign
rs3740114668:105,441,759T/G—likely benign
rs7676712308:105,441,790G/A—likely benign
rs3707013568:105,441,798C/A—uncertain significance
rs2009136828:105,441,818C/T—likely pathogenic
rs7796637528:105,441,825G/A—uncertain significance
rs7596264698:105,441,828G/A—uncertain significance
rs7738621088:105,441,845G/A—uncertain significance
rs8860625888:105,441,867T/A—uncertain significance
rs7676166498:105,441,885C/G—uncertain significance
rs7528862538:105,441,887G/A—uncertain significance
rs2019244738:105,441,906T/C—uncertain significance
rs28531688:105,447,058C/Gdownstream gene variant—
rs2004954348:105,456,466C/A—likely benign
rs2016976128:105,456,492C/T—likely benign
rs353710658:105,456,504A/G—benign
rs1507907308:105,456,511G/C—uncertain significance
rs7513710118:105,456,519C/T—uncertain significance
rs9019822028:105,456,555G/A—likely benign
rs7463907098:105,456,562A/G—uncertain significance
rs7804443318:105,456,565G/A—uncertain significance
rs3748055218:105,456,579C/T—likely benign
rs3677063948:105,456,580G/A—uncertain significance
rs25378177438:105,456,585C/G—uncertain significance
rs78254278:105,456,597T/C—benign
rs1403899508:105,456,618G/A—likely benign
rs1442633588:105,456,622C/T—uncertain significance
rs7557491428:105,456,640C/T—uncertain significance
rs3770736198:105,459,547C/T—uncertain significance
rs7554402878:105,459,548G/A—uncertain significance
rs1880382788:105,459,576C/T—likely benign
rs7711601558:105,459,587G/A—pathogenic
rs21407189408:105,459,592A/G—uncertain significance
rs1477722698:105,459,601A/C—uncertain significance
rs7598100648:105,459,604T/C—uncertain significance
rs5292251308:105,459,612C/T—likely benign
rs360275518:105,459,614G/A—benign

Showing 100 of 176 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.