rs587781611
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs587781611(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43076571 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs587781611 |
dbSNP (classic) | rs587781611 |
ClinGen | rs587781611 |
ebi | rs587781611 |
HLI | rs587781611 |
Exac | rs587781611 |
Gnomad | rs587781611 |
Varsome | rs587781611 |
LitVar | rs587781611 |
Map | rs587781611 |
PheGenI | rs587781611 |
Biobank | rs587781611 |
1000 genomes | rs587781611 |
hgdp | rs587781611 |
ensembl | rs587781611 |
geneview | rs587781611 |
scholar | rs587781611 |
rs587781611 | |
pharmgkb | rs587781611 |
gwascentral | rs587781611 |
openSNP | rs587781611 |
23andMe | rs587781611 |
SNPshot | rs587781611 |
SNPdbe | rs587781611 |
MSV3d | rs587781611 |
GWAS Ctlg | rs587781611 |
Max Magnitude | 6 |
BRCA1, c.4401delG (p.Asn1468Ilefs)
ClinVar | |
---|---|
Risk | rs587781611(-;-) |
Alt | rs587781611(-;-) |
Reference | Rs587781611(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41228588delC |
CLNSRC | |
CLNACC | RCV000129698.2, RCV000238940.3, |