rs876658404
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs876658404(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43094529 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs876658404 |
dbSNP (classic) | rs876658404 |
ClinGen | rs876658404 |
ebi | rs876658404 |
HLI | rs876658404 |
Exac | rs876658404 |
Gnomad | rs876658404 |
Varsome | rs876658404 |
LitVar | rs876658404 |
Map | rs876658404 |
PheGenI | rs876658404 |
Biobank | rs876658404 |
1000 genomes | rs876658404 |
hgdp | rs876658404 |
ensembl | rs876658404 |
geneview | rs876658404 |
scholar | rs876658404 |
rs876658404 | |
pharmgkb | rs876658404 |
gwascentral | rs876658404 |
openSNP | rs876658404 |
23andMe | rs876658404 |
SNPshot | rs876658404 |
SNPdbe | rs876658404 |
MSV3d | rs876658404 |
GWAS Ctlg | rs876658404 |
Max Magnitude | 6 |
aka c.787+215del
ClinVar | |
---|---|
Risk | rs876658404(-;-) |
Alt | rs876658404(-;-) |
Reference | Rs876658404(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41246546delG |
CLNSRC | |
CLNACC | RCV000221431.1, |