rs587782834
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AA;AA) | 0 | common in clinvar |
Make rs587782834(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43091561 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs587782834 |
dbSNP (classic) | rs587782834 |
ClinGen | rs587782834 |
ebi | rs587782834 |
HLI | rs587782834 |
Exac | rs587782834 |
Gnomad | rs587782834 |
Varsome | rs587782834 |
LitVar | rs587782834 |
Map | rs587782834 |
PheGenI | rs587782834 |
Biobank | rs587782834 |
1000 genomes | rs587782834 |
hgdp | rs587782834 |
ensembl | rs587782834 |
geneview | rs587782834 |
scholar | rs587782834 |
rs587782834 | |
pharmgkb | rs587782834 |
gwascentral | rs587782834 |
openSNP | rs587782834 |
23andMe | rs587782834 |
SNPshot | rs587782834 |
SNPdbe | rs587782834 |
MSV3d | rs587782834 |
GWAS Ctlg | rs587782834 |
Max Magnitude | 6 |
aka c.788-530_788-529del
ClinVar | |
---|---|
Risk | rs587782834(-;-) |
Alt | rs587782834(-;-) |
Reference | Rs587782834(AA;AA) |
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.41243578_41243579delTT |
CLNSRC | |
CLNACC | RCV000132419.2, RCV000241067.1, |