rs2297480
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;C) | normal | |
| (C;C) | reduced response to anti-osteoporosis drugs |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 155309691 |
| Gene | FDPS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2297480 |
| dbSNP (classic) | rs2297480 |
| ClinGen | rs2297480 |
| ebi | rs2297480 |
| HLI | rs2297480 |
| Exac | rs2297480 |
| Gnomad | rs2297480 |
| Varsome | rs2297480 |
| LitVar | rs2297480 |
| Map | rs2297480 |
| PheGenI | rs2297480 |
| Biobank | rs2297480 |
| 1000 genomes | rs2297480 |
| hgdp | rs2297480 |
| ensembl | rs2297480 |
| geneview | rs2297480 |
| scholar | rs2297480 |
| rs2297480 | |
| pharmgkb | rs2297480 |
| gwascentral | rs2297480 |
| openSNP | rs2297480 |
| 23andMe | rs2297480 |
| SNPshot | rs2297480 |
| SNPdbe | rs2297480 |
| MSV3d | rs2297480 |
| GWAS Ctlg | rs2297480 |
| GMAF | 0.4183 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs2297480 is a SNP in the FDPS gene, which encodes an enzyme in the mevalonate pathway and therefore might alter the response to amino-bisphonate (drug) treatment of postmenopausal osteoporosis.
A study of 234 Danish postmenopausal women treated for at least 2 years with amino-bisphonates concluded that rs2297480(C;C) homozygotes do not respond as successfully as (A;A) or (A;C) genotypes.[PMID 18687167]
[PMID 17368768
] Farnesyl diphosphate synthase: a novel genotype association with bone mineral density in elderly women.
[PMID 19150398] Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse.
[PMID 20191015] Genetic polymorphism of geranylgeranyl diphosphate synthase (GGSP1) predicts bone density response to bisphosphonate therapy in Korean women.
[PMID 21151198] Common allelic variants of the farnesyl diphosphate synthase gene influence the response of osteoporotic women to bisphosphonates.
[PMID 21196316] Pharmacogenetics of bisphosphonate-associated osteonecrosis of the jaw.
| ClinVar | |
|---|---|
| Risk | Rs2297480(C;C) |
| Alt | Rs2297480(C;C) |
| Reference | Rs2297480(A;A) |
| Significance | Drug-response |
| Disease | Bisphosphonates response - Efficacy |
| Variation | info |
| Gene | FDPS PKLR |
| CLNDBN | Bisphosphonates response - Efficacy |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155279482T>G |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211252.1, |
