rs80358089
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | Normal |
Make rs80358089(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43067606 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358089 |
dbSNP (classic) | rs80358089 |
ClinGen | rs80358089 |
ebi | rs80358089 |
HLI | rs80358089 |
Exac | rs80358089 |
Gnomad | rs80358089 |
Varsome | rs80358089 |
LitVar | rs80358089 |
Map | rs80358089 |
PheGenI | rs80358089 |
Biobank | rs80358089 |
1000 genomes | rs80358089 |
hgdp | rs80358089 |
ensembl | rs80358089 |
geneview | rs80358089 |
scholar | rs80358089 |
rs80358089 | |
pharmgkb | rs80358089 |
gwascentral | rs80358089 |
openSNP | rs80358089 |
23andMe | rs80358089 |
SNPshot | rs80358089 |
SNPdbe | rs80358089 |
MSV3d | rs80358089 |
GWAS Ctlg | rs80358089 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80358089(C;C) |
Alt | rs80358089(C;C) |
Reference | Rs80358089(T;T) |
Significance | Other |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41219623A>G |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031212.4, RCV000465250.1, |