rs2296241
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2296241(A;A) |
| Make rs2296241(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 54169680 |
| Gene | CYP24A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2296241 |
| dbSNP (classic) | rs2296241 |
| ClinGen | rs2296241 |
| ebi | rs2296241 |
| HLI | rs2296241 |
| Exac | rs2296241 |
| Gnomad | rs2296241 |
| Varsome | rs2296241 |
| LitVar | rs2296241 |
| Map | rs2296241 |
| PheGenI | rs2296241 |
| Biobank | rs2296241 |
| 1000 genomes | rs2296241 |
| hgdp | rs2296241 |
| ensembl | rs2296241 |
| geneview | rs2296241 |
| scholar | rs2296241 |
| rs2296241 | |
| pharmgkb | rs2296241 |
| gwascentral | rs2296241 |
| openSNP | rs2296241 |
| 23andMe | rs2296241 |
| SNPshot | rs2296241 |
| SNPdbe | rs2296241 |
| MSV3d | rs2296241 |
| GWAS Ctlg | rs2296241 |
| GMAF | 0.472 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23169318] Genetic sequence variants in vitamin D metabolism pathway genes, serum vitamin D level and outcome in head and neck cancer patients
[PMID 15651992
] Variants in the vitamin D receptor gene and asthma.
[PMID 16600026] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 17244366] Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.
[PMID 19454612] Vitamin D pathway gene variants and prostate cancer risk.
[PMID 20687218] Vitamin D pathway gene variants and prostate cancer prognosis.
[PMID 21828234] Common genetic variants in the vitamin D pathway including genome-wide associated variants are not associated with breast cancer risk among Chinese women.
[PMID 22612324] Vitamin D receptor, CYP27B1 and CYP24A1 genes polymorphisms association with oral cancer risk and survival.
[PMID 22690899] Impaired vitamin D activation and association with CYP24A1 haplotypes in differentiated thyroid carcinoma.
[PMID 26303648] Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk
| ClinVar | |
|---|---|
| Risk | rs2296241(A;A) |
| Alt | rs2296241(A;A) |
| Reference | Rs2296241(G;G) |
| Significance | Non-pathogenic |
| Disease | Infantile hypercalcemia |
| Variation | info |
| Gene | CYP24A1 |
| CLNDBN | Infantile hypercalcemia |
| Reversed | 0 |
| HGVS | NC_000020.10:g.52786219G>A |
| CLNSRC | |
| CLNACC | RCV000357015.1, |
[PMID 31959263] Vitamin D related genes and cardiometabolic markers in healthy children: a Mendelian randomization study.
