rs28897698
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs28897698(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43047685 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs28897698 |
dbSNP (classic) | rs28897698 |
ClinGen | rs28897698 |
ebi | rs28897698 |
HLI | rs28897698 |
Exac | rs28897698 |
Gnomad | rs28897698 |
Varsome | rs28897698 |
LitVar | rs28897698 |
Map | rs28897698 |
PheGenI | rs28897698 |
Biobank | rs28897698 |
1000 genomes | rs28897698 |
hgdp | rs28897698 |
ensembl | rs28897698 |
geneview | rs28897698 |
scholar | rs28897698 |
rs28897698 | |
pharmgkb | rs28897698 |
gwascentral | rs28897698 |
openSNP | rs28897698 |
23andMe | rs28897698 |
SNPshot | rs28897698 |
SNPdbe | rs28897698 |
MSV3d | rs28897698 |
GWAS Ctlg | rs28897698 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs28897698(A;A) rs28897698(T;T) |
Alt | rs28897698(A;A) rs28897698(T;T) |
Reference | Rs28897698(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41199702C>A; NC_000017.10:g.41199702C>T |
CLNSRC | ClinVar |
CLNACC | RCV000048988.2, RCV000112651.1, RCV000235944.1, RCV000230445.1, |