rs276174904
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs276174904(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32363525 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs276174904 |
dbSNP (classic) | rs276174904 |
ClinGen | rs276174904 |
ebi | rs276174904 |
HLI | rs276174904 |
Exac | rs276174904 |
Gnomad | rs276174904 |
Varsome | rs276174904 |
LitVar | rs276174904 |
Map | rs276174904 |
PheGenI | rs276174904 |
Biobank | rs276174904 |
1000 genomes | rs276174904 |
hgdp | rs276174904 |
ensembl | rs276174904 |
geneview | rs276174904 |
scholar | rs276174904 |
rs276174904 | |
pharmgkb | rs276174904 |
gwascentral | rs276174904 |
openSNP | rs276174904 |
23andMe | rs276174904 |
SNPshot | rs276174904 |
SNPdbe | rs276174904 |
MSV3d | rs276174904 |
GWAS Ctlg | rs276174904 |
Max Magnitude | 6 |
rs276174904, also known as 8551insA, c.8323_8324insA and p.Met2775?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs276174904(A;A) |
Alt | rs276174904(A;A) |
Reference | Rs276174904(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32937662dupA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000113901.3, |