rs6929137
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs6929137(A;A) |
| Make rs6929137(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 151615542 |
| Gene | CCDC170, LOC107986528 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6929137 |
| dbSNP (classic) | rs6929137 |
| ClinGen | rs6929137 |
| ebi | rs6929137 |
| HLI | rs6929137 |
| Exac | rs6929137 |
| Gnomad | rs6929137 |
| Varsome | rs6929137 |
| LitVar | rs6929137 |
| Map | rs6929137 |
| PheGenI | rs6929137 |
| Biobank | rs6929137 |
| 1000 genomes | rs6929137 |
| hgdp | rs6929137 |
| ensembl | rs6929137 |
| geneview | rs6929137 |
| scholar | rs6929137 |
| rs6929137 | |
| pharmgkb | rs6929137 |
| gwascentral | rs6929137 |
| openSNP | rs6929137 |
| 23andMe | rs6929137 |
| SNPshot | rs6929137 |
| SNPdbe | rs6929137 |
| MSV3d | rs6929137 |
| GWAS Ctlg | rs6929137 |
| GMAF | 0.3402 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs6929137 increases susceptibility to Bone mineral density variations, lower for carriers of the A allele [PMID 18445777]
| GWAS snp | |
|---|---|
| PMID | [PMID 19079262] |
| Trait | Bone mineral density (spine) |
| Title | New sequence variants associated with bone mineral density |
| Risk Allele | A |
| P-val | 2E-10 |
| Odds Ratio | 0.10 [0.07-0.13] SD decrease |
[PMID 21528353] Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population
[PMID 21646926] Interactions of osteoporosis candidate genes for age at menarche, age at natural menopause, and maximal height in Han Chinese women
[PMID 19181680
] Common variants in the region around Osterix are associated with bone mineral density and growth in childhood.
[PMID 20072603] Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.
[PMID 20661439] Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
[PMID 24481879] Association of ESR1 and C6orf97 gene polymorphism with osteoporosis in postmenopausal women
| ClinVar | |
|---|---|
| Risk | rs6929137(A;A) |
| Alt | rs6929137(A;A) |
| Reference | Rs6929137(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Estrogen resistance |
| Variation | info |
| Gene | CCDC170 |
| CLNDBN | Estrogen resistance |
| Reversed | 0 |
| HGVS | NC_000006.11:g.151936677G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000143990.1, |
