rs276174896
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs276174896(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32362580 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174896 |
dbSNP (classic) | rs276174896 |
ClinGen | rs276174896 |
ebi | rs276174896 |
HLI | rs276174896 |
Exac | rs276174896 |
Gnomad | rs276174896 |
Varsome | rs276174896 |
LitVar | rs276174896 |
Map | rs276174896 |
PheGenI | rs276174896 |
Biobank | rs276174896 |
1000 genomes | rs276174896 |
hgdp | rs276174896 |
ensembl | rs276174896 |
geneview | rs276174896 |
scholar | rs276174896 |
rs276174896 | |
pharmgkb | rs276174896 |
gwascentral | rs276174896 |
openSNP | rs276174896 |
23andMe | rs276174896 |
SNPshot | rs276174896 |
SNPdbe | rs276174896 |
MSV3d | rs276174896 |
GWAS Ctlg | rs276174896 |
Max Magnitude | 6 |
rs276174896, also known as Y2621X, c.7863T>A and p.Tyr2621Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs276174896(A;A) |
Alt | rs276174896(A;A) |
Reference | Rs276174896(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32936717T>A |
CLNSRC | ClinVar |
CLNACC | RCV000045332.2, RCV000113834.3, |