DPYD
dihydropyrimidine dehydrogenase
Pharmacogene
Summary
The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Known Variants736 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs114096998 | 1:97,078,987 | G/T | missense variant | conflicting classifications of pathogenicity |
| rs148799944 | 1:97,078,993 | C/G | missense variant | — |
| rs140114515 | 1:97,079,005 | C/T | missense variant | uncertain significance |
| rs773868825 | 1:97,079,007 | C/T | missense variant | — |
| rs760485592 | 1:97,079,026 | G/A | missense variant | — |
| rs766438205 | 1:97,079,029 | T/C | missense variant | — |
| rs867143119 | 1:97,079,042 | C/A | missense variant | — |
| rs754786483 | 1:97,079,044 | T/C | missense variant | — |
| rs778911905 | 1:97,079,053 | A/C | missense variant | — |
| rs151074666 | 1:97,079,056 | C/T | missense variant | uncertain significance |
| rs745982505 | 1:97,079,062 | T/C | missense variant | uncertain significance |
| rs672601273 | 1:97,079,067 | C/A | missense variant | not provided |
| rs140989814 | 1:97,079,073 | C/G | missense variant | — |
| rs139459586 | 1:97,079,076 | A/C | missense variant | — |
| rs202144771 | 1:97,079,077 | G/A | missense variant | — |
| rs772544099 | 1:97,079,100 | G/T | missense variant | — |
| rs760235888 | 1:97,079,104 | C/T | missense variant | uncertain significance |
| rs61757362 | 1:97,079,106 | G/A | missense variant | uncertain significance |
| rs753820482 | 1:97,079,110 | T/C | missense variant | — |
| rs759562628 | 1:97,079,113 | T/G | missense variant | — |
| rs201268750 | 1:97,079,120 | G/T | missense variant | — |
| rs757376267 | 1:97,079,134 | C/A | missense variant | — |
| rs145529148 | 1:97,079,139 | T/C | missense variant | conflicting classifications of pathogenicity |
| rs776289153 | 1:97,082,349 | C/T | missense variant | — |
| rs765247038 | 1:97,082,352 | G/A | missense variant | — |
| rs868235016 | 1:97,082,354 | C/T | missense variant | — |
| rs762779297 | 1:97,082,373 | T/C | missense variant | uncertain significance |
| rs763862486 | 1:97,082,389 | C/T | missense variant | uncertain significance |
| rs867232786 | 1:97,082,392 | C/T | missense variant | — |
| rs372307932 | 1:97,082,394 | A/T | missense variant | likely pathogenic |
| rs753950237 | 1:97,082,400 | G/A | missense variant | — |
| rs755428442 | 1:97,082,407 | C/G | missense variant | — |
| rs748639205 | 1:97,082,415 | A/C | missense variant | uncertain significance |
| rs778054451 | 1:97,082,416 | C/T | missense variant | — |
| rs776236081 | 1:97,082,428 | C/T | missense variant | — |
| rs137878450 | 1:97,082,431 | C/A | missense variant | — |
| rs568169006 | 1:97,082,448 | T/C | missense variant | — |
| rs775494607 | 1:97,082,454 | G/A | missense variant | — |
| rs762858106 | 1:97,082,455 | C/T | missense variant | — |
| rs763893877 | 1:97,082,462 | T/C | missense variant | — |
| rs774134971 | 1:97,082,464 | T/C | missense variant | — |
| rs867600987 | 1:97,082,470 | C/T | missense variant | — |
| rs771930534 | 1:97,098,493 | A/T | missense variant | — |
| rs772826416 | 1:97,098,502 | A/G | missense variant | — |
| rs764679468 | 1:97,098,524 | A/C | missense variant | — |
| rs757695236 | 1:97,098,548 | C/T | missense variant | — |
| rs188052243 | 1:97,098,577 | T/C | missense variant | — |
| rs755729055 | 1:97,098,587 | T/C | missense variant | — |
| rs779573574 | 1:97,098,591 | T/A | missense variant | — |
| rs559427764 | 1:97,098,594 | C/A | missense variant | — |
| rs768200107 | 1:97,098,596 | T/G | missense variant | — |
| rs147545709 | 1:97,098,599 | G/A | missense variant | — |
| rs759766897 | 1:97,098,610 | T/C | missense variant | — |
| rs769932607 | 1:97,098,613 | G/A | missense variant | — |
| rs762911226 | 1:97,098,623 | T/A | missense variant | uncertain significance |
| rs201035051 | 1:97,098,632 | T/G | missense variant | — |
| rs993569 | 1:97,106,278 | G/A | intron variant | — |
| rs368519011 | 1:97,193,071 | T/C | missense variant | — |
| rs775570841 | 1:97,193,072 | G/C | missense variant | — |
| rs749586100 | 1:97,193,081 | T/A | missense variant | — |
| rs372909322 | 1:97,193,087 | T/C | missense variant | — |
| rs774579695 | 1:97,193,091 | C/T | missense variant | — |
| rs557220418 | 1:97,193,092 | G/A | missense variant | uncertain significance |
| rs768157853 | 1:97,193,095 | G/C | missense variant | — |
| rs773815814 | 1:97,193,098 | C/A | missense variant | uncertain significance |
| rs766833304 | 1:97,193,101 | G/C | missense variant | — |
| rs753419296 | 1:97,193,107 | C/G | missense variant | — |
| rs60139309 | 1:97,193,109 | T/C | missense variant | — |
| rs752228747 | 1:97,193,124 | G/A | missense variant | uncertain significance |
| rs757954074 | 1:97,193,128 | C/T | missense variant | — |
| rs765075551 | 1:97,193,142 | T/C | missense variant | — |
| rs756992995 | 1:97,193,143 | C/T | missense variant | — |
| rs672601275 | 1:97,193,159 | T/G | missense variant | not provided |
| rs571114616 | 1:97,193,163 | A/G | missense variant | uncertain significance |
| rs372058915 | 1:97,193,164 | T/C | missense variant | — |
| rs748214188 | 1:97,193,181 | A/T | missense variant | — |
| rs773584401 | 1:97,193,199 | C/A | missense variant | — |
| rs761302217 | 1:97,193,202 | T/C | missense variant | — |
| rs199777072 | 1:97,193,206 | C/T | missense variant | conflicting classifications of pathogenicity |
| rs200687447 | 1:97,193,209 | C/T | missense variant | — |
| rs752388408 | 1:97,193,224 | C/T | missense variant | — |
| rs762446803 | 1:97,193,235 | A/C | missense variant | — |
| rs751399062 | 1:97,193,238 | G/T | missense variant | — |
| rs757227327 | 1:97,193,241 | C/T | missense variant | — |
| rs780813130 | 1:97,193,248 | C/T | missense variant | — |
| rs371313778 | 1:97,234,860 | C/T | missense variant | — |
| rs763449831 | 1:97,234,871 | C/T | missense variant | — |
| rs761609256 | 1:97,234,883 | T/G | missense variant | — |
| rs767464878 | 1:97,234,889 | C/A | missense variant | — |
| rs750423752 | 1:97,234,902 | A/C | missense variant | — |
| rs547099198 | 1:97,234,916 | G/A | missense variant | uncertain significance |
| rs780047918 | 1:97,234,917 | T/C | missense variant | — |
| rs267598785 | 1:97,234,929 | G/A | missense variant | — |
| rs758649719 | 1:97,234,935 | C/T | missense variant | — |
| rs777673186 | 1:97,234,937 | G/C | missense variant | uncertain significance |
| rs747132274 | 1:97,234,946 | C/G | missense variant | — |
| rs770958862 | 1:97,234,947 | G/A | missense variant | uncertain significance |
| rs199634007 | 1:97,234,958 | G/T | missense variant | — |
| rs374825099 | 1:97,234,964 | G/T | missense variant | — |
| rs672601276 | 1:97,234,965 | C/A | missense variant | not provided |
Showing 100 of 736 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.