rs273899694
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs273899694(-;T) |
Make rs273899694(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43104865 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273899694 |
dbSNP (classic) | rs273899694 |
ClinGen | rs273899694 |
ebi | rs273899694 |
HLI | rs273899694 |
Exac | rs273899694 |
Gnomad | rs273899694 |
Varsome | rs273899694 |
LitVar | rs273899694 |
Map | rs273899694 |
PheGenI | rs273899694 |
Biobank | rs273899694 |
1000 genomes | rs273899694 |
hgdp | rs273899694 |
ensembl | rs273899694 |
geneview | rs273899694 |
scholar | rs273899694 |
rs273899694 | |
pharmgkb | rs273899694 |
gwascentral | rs273899694 |
openSNP | rs273899694 |
23andMe | rs273899694 |
SNPshot | rs273899694 |
SNPdbe | rs273899694 |
MSV3d | rs273899694 |
GWAS Ctlg | rs273899694 |
Max Magnitude | 0 |
aka c.301+2dup; BRCA1 variant of uncertain significance according to ClinVar
ClinVar | |
---|---|
Risk | rs273899694(T;T) |
Alt | rs273899694(T;T) |
Reference | Rs273899694(-;-) |
Significance | Other |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41256883dupA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000112241.1, RCV000467483.1, |