rs273897657
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 rs273897657(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43115724 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273897657 |
dbSNP (classic) | rs273897657 |
ClinGen | rs273897657 |
ebi | rs273897657 |
HLI | rs273897657 |
Exac | rs273897657 |
Gnomad | rs273897657 |
Varsome | rs273897657 |
LitVar | rs273897657 |
Map | rs273897657 |
PheGenI | rs273897657 |
Biobank | rs273897657 |
1000 genomes | rs273897657 |
hgdp | rs273897657 |
ensembl | rs273897657 |
geneview | rs273897657 |
scholar | rs273897657 |
rs273897657 | |
pharmgkb | rs273897657 |
gwascentral | rs273897657 |
openSNP | rs273897657 |
23andMe | rs273897657 |
SNPshot | rs273897657 |
SNPdbe | rs273897657 |
MSV3d | rs273897657 |
GWAS Ctlg | rs273897657 |
Max Magnitude | 6 |
aka c.134+2del
ClinVar | |
---|---|
Risk | rs273897657(-;-) |
Alt | rs273897657(-;-) |
Reference | Rs273897657(T;T) |
Significance | Other |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41267741delA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047429.2, RCV000111850.1, |