rs878854963
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs878854963(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43095867 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs878854963 |
dbSNP (classic) | rs878854963 |
ClinGen | rs878854963 |
ebi | rs878854963 |
HLI | rs878854963 |
Exac | rs878854963 |
Gnomad | rs878854963 |
Varsome | rs878854963 |
LitVar | rs878854963 |
Map | rs878854963 |
PheGenI | rs878854963 |
Biobank | rs878854963 |
1000 genomes | rs878854963 |
hgdp | rs878854963 |
ensembl | rs878854963 |
geneview | rs878854963 |
scholar | rs878854963 |
rs878854963 | |
pharmgkb | rs878854963 |
gwascentral | rs878854963 |
openSNP | rs878854963 |
23andMe | rs878854963 |
SNPshot | rs878854963 |
SNPdbe | rs878854963 |
MSV3d | rs878854963 |
GWAS Ctlg | rs878854963 |
Max Magnitude | 6 |
aka c.649del
ClinVar | |
---|---|
Risk | rs878854963(-;-) |
Alt | rs878854963(-;-) |
Reference | Rs878854963(A;A) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41247884delT |
CLNSRC | |
CLNACC | RCV000226329.1, |