rs397509007
From SNPedia
Merged into | rs80357540 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(CT;CT) | 0 | common in clinvar |
Make rs397509007(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092786 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509007 |
dbSNP (classic) | rs397509007 |
ClinGen | rs397509007 |
ebi | rs397509007 |
HLI | rs397509007 |
Exac | rs397509007 |
Gnomad | rs397509007 |
Varsome | rs397509007 |
LitVar | rs397509007 |
Map | rs397509007 |
PheGenI | rs397509007 |
Biobank | rs397509007 |
1000 genomes | rs397509007 |
hgdp | rs397509007 |
ensembl | rs397509007 |
geneview | rs397509007 |
scholar | rs397509007 |
rs397509007 | |
pharmgkb | rs397509007 |
gwascentral | rs397509007 |
openSNP | rs397509007 |
23andMe | rs397509007 |
SNPshot | rs397509007 |
SNPdbe | rs397509007 |
MSV3d | rs397509007 |
GWAS Ctlg | rs397509007 |
Status | Merged into rs80357540 |
Max Magnitude | 6 |
BRCA1, c.2744_2745delCT (p.Ser915Terfs)
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs397509007(CT;CT) |
Significance | Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41244803_41244804delAG |
CLNSRC | Breast Cancer Information Core (BRCA1) OMIM Allelic Variant |
CLNACC | RCV000047955.2, RCV000132272.2, RCV000167766.4, |