rs587781423
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 rs587781423(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43092910 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs587781423 |
dbSNP (classic) | rs587781423 |
ClinGen | rs587781423 |
ebi | rs587781423 |
HLI | rs587781423 |
Exac | rs587781423 |
Gnomad | rs587781423 |
Varsome | rs587781423 |
LitVar | rs587781423 |
Map | rs587781423 |
PheGenI | rs587781423 |
Biobank | rs587781423 |
1000 genomes | rs587781423 |
hgdp | rs587781423 |
ensembl | rs587781423 |
geneview | rs587781423 |
scholar | rs587781423 |
rs587781423 | |
pharmgkb | rs587781423 |
gwascentral | rs587781423 |
openSNP | rs587781423 |
23andMe | rs587781423 |
SNPshot | rs587781423 |
SNPdbe | rs587781423 |
MSV3d | rs587781423 |
GWAS Ctlg | rs587781423 |
Max Magnitude | 6 |
BRCA1, c.2621delA (p.Asn874Ilefs)
ClinVar | |
---|---|
Risk | rs587781423(-;-) |
Alt | rs587781423(-;-) |
Reference | Rs587781423(A;A) |
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.41244927delT |
CLNSRC | |
CLNACC | RCV000129302.2, RCV000241057.1, |