rs3918290
NM_000110.4(DPYD):c.1905+1G>A
- fluorouracil response - ToxicityDrug response · ★★★ · germline
- fluorouracil response - OtherDrug response · ★★★ · germline
- capecitabine response - ToxicityDrug response · ★★★ · germline
- tegafur response - ToxicityDrug response · ★★★ · germline
- Dihydropyrimidine dehydrogenase deficiency (DPYDD)Likely pathogenic · ★★ · germline
- DPYD-related disorderPathogenic · ★ · maternal
- Inborn genetic diseasesPathogenic · ★ · germline
- Fluorouracil responsePathogenic · ★ · germline
- Hirschsprung disease, susceptibility to, 1Uncertain significance · germline
- not providedConflicting interpretations · ★ · germline
gnomAD allele frequency 6.46e-3
rs3918290 is a genetic variant located in the DPYD gene. dbsnp · gene
In gnomAD, rs3918290 has an overall allele frequency of 0.65%. gnomad · frequency
In ClinVar, rs3918290 is classified as Drug response (toxicity) for fluorouracil response (3 review stars, germline; last evaluated 2021-05-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs3918290 is classified as Drug response for fluorouracil response - Other (3 review stars, germline; last evaluated 2021-05-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs3918290 is classified as Drug response (toxicity) for capecitabine response (3 review stars, germline; last evaluated 2021-05-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs3918290 is classified as Drug response (toxicity) for tegafur response (3 review stars, germline; last evaluated 2021-05-24). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs3918290 is classified as Likely pathogenic for Dihydropyrimidine dehydrogenase deficiency (DPYDD) (2 review stars, germline; last evaluated 2024-03-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs3918290 is classified as Pathogenic for DPYD-related disorder (1 review star, maternal; last evaluated 2024-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs3918290 is classified as Pathogenic for Inborn genetic diseases (1 review star, germline; last evaluated 2021-03-09). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs3918290 is classified as Pathogenic for Fluorouracil response (1 review star, germline; last evaluated 2016-05-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs3918290 is classified as Uncertain significance for Hirschsprung disease, susceptibility to, 1 (0 review stars, germline; last evaluated 2015-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs3918290 is classified as Conflicting interpretations for not provided (1 review star, germline; last evaluated 2024-11-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts d5680e8361f8ddad · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.