rs869025213
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;AA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs869025213(AA;AA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43074357 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025213 |
dbSNP (classic) | rs869025213 |
ClinGen | rs869025213 |
ebi | rs869025213 |
HLI | rs869025213 |
Exac | rs869025213 |
Gnomad | rs869025213 |
Varsome | rs869025213 |
LitVar | rs869025213 |
Map | rs869025213 |
PheGenI | rs869025213 |
Biobank | rs869025213 |
1000 genomes | rs869025213 |
hgdp | rs869025213 |
ensembl | rs869025213 |
geneview | rs869025213 |
scholar | rs869025213 |
rs869025213 | |
pharmgkb | rs869025213 |
gwascentral | rs869025213 |
openSNP | rs869025213 |
23andMe | rs869025213 |
SNPshot | rs869025213 |
SNPdbe | rs869025213 |
MSV3d | rs869025213 |
GWAS Ctlg | rs869025213 |
Max Magnitude | 6 |
aka c.4647_4648dup
ClinVar | |
---|---|
Risk | rs869025213(AA;AA) |
Alt | rs869025213(AA;AA) |
Reference | Rs869025213(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41226375_41226376dupTT |
CLNSRC | |
CLNACC | RCV000208006.1, |