RS116855232 NUDT15
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What This Variant Does
"c.415C>
Associated Conditions
Thiopurines
poor metabolism of
2
mercaptopurine response - Dosage
azathioprine response - Toxicity
NUDT15-related disorder
Thiopurines
poor metabolism of
2
mercaptopurine response - Dosage
azathioprine response - Toxicity
NUDT15-related disorder
GWAS Studies (8)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Thiopurine-induced early leukopenia in Crohn's disease | T | OR: 35.63 | 5E-94 | PubMed |
| Thiopurine-induced leukopenia in inflammatory bowel disease | — | OR: 5.8 | 1E-33 | PubMed |
| Thiopurine-induced alopecia in inflammatory bowel disease | — | OR: 10.4 | 4E-29 | PubMed |
| Thiopurine-induced leukopenia in inflammatory bowel disease | C | OR: 3.9 | 1E-22 | PubMed |
| 6-mercaptopurine dose in acute lymphoblastic leukaemia | — | OR: 10.99 | 4E-13 | PubMed |
| Thiopurine-induced severe leukopenia in inflammatory bowel disease | — | — | 1E-8 | PubMed |
| Thiopurine-induced acute severe leukopenia in inflammatory bowel disease | — | — | 1E-8 | PubMed |
| Thiopurine-induced severe alopecia in inflammatory bowel disease | — | — | 1E-8 | PubMed |
ClinVar Assertions (1)
NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys)
Population Frequencies
gnomAD ALL
98.8%
1kG AFR
99.9%
1kG ALL
4%
1kG AMR
95.5%
1kG EAS
90.5%
1kG EUR
0.2%
1kG SAS
93%
Other Variants in NUDT15