rs1799943
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1799943(A;A) |
| Make rs1799943(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32316435 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799943 |
| dbSNP (classic) | rs1799943 |
| ClinGen | rs1799943 |
| ebi | rs1799943 |
| HLI | rs1799943 |
| Exac | rs1799943 |
| Gnomad | rs1799943 |
| Varsome | rs1799943 |
| LitVar | rs1799943 |
| Map | rs1799943 |
| PheGenI | rs1799943 |
| Biobank | rs1799943 |
| 1000 genomes | rs1799943 |
| hgdp | rs1799943 |
| ensembl | rs1799943 |
| geneview | rs1799943 |
| scholar | rs1799943 |
| rs1799943 | |
| pharmgkb | rs1799943 |
| gwascentral | rs1799943 |
| openSNP | rs1799943 |
| 23andMe | rs1799943 |
| SNPshot | rs1799943 |
| SNPdbe | rs1799943 |
| MSV3d | rs1799943 |
| GWAS Ctlg | rs1799943 |
| GMAF | 0.2185 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22809218
] BRCA2 variants and cardiovascular disease in a multi-ethnic study
| ClinVar | |
|---|---|
| Risk | rs1799943(A;A) rs1799943(C;C) rs1799943(T;T) |
| Alt | rs1799943(A;A) rs1799943(C;C) rs1799943(T;T) |
| Reference | Rs1799943(G;G) |
| Significance | Non-pathogenic |
| Disease | Breast-ovarian cancer Familial cancer of breast not specified Hereditary breast and ovarian cancer syndrome Fanconi anemia |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast not specified Hereditary breast and ovarian cancer syndrome Fanconi anemia |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32890572G>A; NC_000013.10:g.32890572G>C; NC_000013.10:g.32890572G>T |
| CLNSRC | Breast Cancer Information Core (BRCA2) |
| CLNACC | RCV000112977.3, RCV000114981.1, RCV000246798.1, RCV000312794.1, RCV000397056.1, RCV000112978.1, RCV000112979.1, |
[PMID 12466288] Haplotype and linkage disequilibrium architecture for human cancer-associated genes.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 19644020] Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
[PMID 23755158] Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility
