rs80356904
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80356904(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093910 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356904 |
dbSNP (classic) | rs80356904 |
ClinGen | rs80356904 |
ebi | rs80356904 |
HLI | rs80356904 |
Exac | rs80356904 |
Gnomad | rs80356904 |
Varsome | rs80356904 |
LitVar | rs80356904 |
Map | rs80356904 |
PheGenI | rs80356904 |
Biobank | rs80356904 |
1000 genomes | rs80356904 |
hgdp | rs80356904 |
ensembl | rs80356904 |
geneview | rs80356904 |
scholar | rs80356904 |
rs80356904 | |
pharmgkb | rs80356904 |
gwascentral | rs80356904 |
openSNP | rs80356904 |
23andMe | rs80356904 |
SNPshot | rs80356904 |
SNPdbe | rs80356904 |
MSV3d | rs80356904 |
GWAS Ctlg | rs80356904 |
Max Magnitude | 6 |
rs80356904, also known as Q541X, c.1621C>T and p.Gln541Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80356904(T;T) |
Alt | rs80356904(T;T) |
Reference | Rs80356904(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41245927G>A |
CLNSRC | ClinVar |
CLNACC | RCV000047543.2, RCV000077493.5, |