rs4942486
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 0 | benign variant |
| (T;T) | 0 | common/normal |
| Reference | GRCh38 38.1/142 |
| Chromosome | 13 |
| Position | 32379251 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4942486 |
| dbSNP (classic) | rs4942486 |
| ClinGen | rs4942486 |
| ebi | rs4942486 |
| HLI | rs4942486 |
| Exac | rs4942486 |
| Gnomad | rs4942486 |
| Varsome | rs4942486 |
| LitVar | rs4942486 |
| Map | rs4942486 |
| PheGenI | rs4942486 |
| Biobank | rs4942486 |
| 1000 genomes | rs4942486 |
| hgdp | rs4942486 |
| ensembl | rs4942486 |
| geneview | rs4942486 |
| scholar | rs4942486 |
| rs4942486 | |
| pharmgkb | rs4942486 |
| gwascentral | rs4942486 |
| openSNP | rs4942486 |
| 23andMe | rs4942486 |
| SNPshot | rs4942486 |
| SNPdbe | rs4942486 |
| MSV3d | rs4942486 |
| GWAS Ctlg | rs4942486 |
| Max Magnitude | 0 |
rs4942486, also known as c.8755-66T>C, is a variant in the BRCA2 gene classified as benign by at least two sources in ClinVar.
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 24097068 ]
|
| Trait | LDL cholesterol |
| Title | Discovery and refinement of loci associated with lipid levels. |
| Risk Allele | T |
| P-val | 2E-11 |
| Odds Ratio | .02 [NR] unit increase |
| ClinVar | |
|---|---|
| Risk | Rs4942486(C;C) |
| Alt | Rs4942486(C;C) |
| Reference | Rs4942486(T;T) |
| Significance | Non-pathogenic |
| Disease | Breast-ovarian cancer not specified |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 not specified |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32953388T>C |
| CLNSRC | Breast Cancer Information Core (BRCA2) |
| CLNACC | RCV000113994.2, RCV000251513.1, |
