rs587780802
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs587780802(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43091657 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs587780802 |
dbSNP (classic) | rs587780802 |
ClinGen | rs587780802 |
ebi | rs587780802 |
HLI | rs587780802 |
Exac | rs587780802 |
Gnomad | rs587780802 |
Varsome | rs587780802 |
LitVar | rs587780802 |
Map | rs587780802 |
PheGenI | rs587780802 |
Biobank | rs587780802 |
1000 genomes | rs587780802 |
hgdp | rs587780802 |
ensembl | rs587780802 |
geneview | rs587780802 |
scholar | rs587780802 |
rs587780802 | |
pharmgkb | rs587780802 |
gwascentral | rs587780802 |
openSNP | rs587780802 |
23andMe | rs587780802 |
SNPshot | rs587780802 |
SNPdbe | rs587780802 |
MSV3d | rs587780802 |
GWAS Ctlg | rs587780802 |
Max Magnitude | 6 |
BRCA1, c.3874delT (p.Ser1292Leufs)
ClinVar | |
---|---|
Risk | rs587780802(-;-) |
Alt | rs587780802(-;-) |
Reference | Rs587780802(T;T) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41243674delA |
CLNSRC | |
CLNACC | RCV000123275.1, RCV000129410.2, RCV000241500.3, |