rs273901746
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 rs273901746(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43063375 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273901746 |
dbSNP (classic) | rs273901746 |
ClinGen | rs273901746 |
ebi | rs273901746 |
HLI | rs273901746 |
Exac | rs273901746 |
Gnomad | rs273901746 |
Varsome | rs273901746 |
LitVar | rs273901746 |
Map | rs273901746 |
PheGenI | rs273901746 |
Biobank | rs273901746 |
1000 genomes | rs273901746 |
hgdp | rs273901746 |
ensembl | rs273901746 |
geneview | rs273901746 |
scholar | rs273901746 |
rs273901746 | |
pharmgkb | rs273901746 |
gwascentral | rs273901746 |
openSNP | rs273901746 |
23andMe | rs273901746 |
SNPshot | rs273901746 |
SNPdbe | rs273901746 |
MSV3d | rs273901746 |
GWAS Ctlg | rs273901746 |
Max Magnitude | 6 |
BRCA1, c.5153-2delA
ClinVar | |
---|---|
Risk | rs273901746(-;-) |
Alt | rs273901746(-;-) |
Reference | Rs273901746(A;A) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41215392delT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048829.3, RCV000077603.4, RCV000129629.3, RCV000479617.1, |