rs606231389
From SNPedia
Merged into | rs80357715 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs606231389(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43093374 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231389 |
dbSNP (classic) | rs606231389 |
ClinGen | rs606231389 |
ebi | rs606231389 |
HLI | rs606231389 |
Exac | rs606231389 |
Gnomad | rs606231389 |
Varsome | rs606231389 |
LitVar | rs606231389 |
Map | rs606231389 |
PheGenI | rs606231389 |
Biobank | rs606231389 |
1000 genomes | rs606231389 |
hgdp | rs606231389 |
ensembl | rs606231389 |
geneview | rs606231389 |
scholar | rs606231389 |
rs606231389 | |
pharmgkb | rs606231389 |
gwascentral | rs606231389 |
openSNP | rs606231389 |
23andMe | rs606231389 |
SNPshot | rs606231389 |
SNPdbe | rs606231389 |
MSV3d | rs606231389 |
GWAS Ctlg | rs606231389 |
Status | Merged into rs80357715 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs606231389(A;A) |
Alt | rs606231389(A;A) |
Reference | Rs606231389(;) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41245391dupT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047735.3, RCV000111778.3, RCV000210761.1, |