rs1054016
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1054016(G;T) |
| Make rs1054016(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 42607866 |
| Gene | TNFSF11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1054016 |
| dbSNP (classic) | rs1054016 |
| ClinGen | rs1054016 |
| ebi | rs1054016 |
| HLI | rs1054016 |
| Exac | rs1054016 |
| Gnomad | rs1054016 |
| Varsome | rs1054016 |
| LitVar | rs1054016 |
| Map | rs1054016 |
| PheGenI | rs1054016 |
| Biobank | rs1054016 |
| 1000 genomes | rs1054016 |
| hgdp | rs1054016 |
| ensembl | rs1054016 |
| geneview | rs1054016 |
| scholar | rs1054016 |
| rs1054016 | |
| pharmgkb | rs1054016 |
| gwascentral | rs1054016 |
| openSNP | rs1054016 |
| 23andMe | rs1054016 |
| SNPshot | rs1054016 |
| SNPdbe | rs1054016 |
| MSV3d | rs1054016 |
| GWAS Ctlg | rs1054016 |
| GMAF | 0.3522 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20231205] Genetic Variations in Genes Encoding RANK, RANKL, and OPG in Rheumatoid Arthritis: A Case-Control Study
[PMID 19458885
] Association analyses of RANKL/RANK/OPG gene polymorphisms with femoral neck compression strength index variation in Caucasians.
[PMID 19641380
] Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans.
[PMID 20531232
] TNFRSF11A and TNFSF11 are associated with age at menarche and natural menopause in white women.
[PMID 23369128
] Genetic polymorphism of the OPG gene associated with breast cancer
| ClinVar | |
|---|---|
| Risk | rs1054016(T;T) |
| Alt | rs1054016(T;T) |
| Reference | Rs1054016(G;G) |
| Significance | Non-pathogenic |
| Disease | Osteopetrosis |
| Variation | info |
| Gene | TNFSF11 |
| CLNDBN | Osteopetrosis |
| Reversed | 0 |
| HGVS | NC_000013.10:g.43182002G>T |
| CLNSRC | |
| CLNACC | RCV000363571.1, |
