rs587776485
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(CA;CA) | 0 | common in clinvar |
Make rs587776485(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43104895 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776485 |
dbSNP (classic) | rs587776485 |
ClinGen | rs587776485 |
ebi | rs587776485 |
HLI | rs587776485 |
Exac | rs587776485 |
Gnomad | rs587776485 |
Varsome | rs587776485 |
LitVar | rs587776485 |
Map | rs587776485 |
PheGenI | rs587776485 |
Biobank | rs587776485 |
1000 genomes | rs587776485 |
hgdp | rs587776485 |
ensembl | rs587776485 |
geneview | rs587776485 |
scholar | rs587776485 |
rs587776485 | |
pharmgkb | rs587776485 |
gwascentral | rs587776485 |
openSNP | rs587776485 |
23andMe | rs587776485 |
SNPshot | rs587776485 |
SNPdbe | rs587776485 |
MSV3d | rs587776485 |
GWAS Ctlg | rs587776485 |
Max Magnitude | 6 |
aka c.130_131delTG
ClinVar | |
---|---|
Risk | rs587776485(-;-) |
Alt | rs587776485(-;-) |
Reference | Rs587776485(CA;CA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.41256912_41256913delCA |
CLNSRC | ClinVar |
CLNACC | RCV000144206.2, |