rs397509277
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GTA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(GTA;GTA) | 0 | common in clinvar |
Make rs397509277(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43049118 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509277 |
dbSNP (classic) | rs397509277 |
ClinGen | rs397509277 |
ebi | rs397509277 |
HLI | rs397509277 |
Exac | rs397509277 |
Gnomad | rs397509277 |
Varsome | rs397509277 |
LitVar | rs397509277 |
Map | rs397509277 |
PheGenI | rs397509277 |
Biobank | rs397509277 |
1000 genomes | rs397509277 |
hgdp | rs397509277 |
ensembl | rs397509277 |
geneview | rs397509277 |
scholar | rs397509277 |
rs397509277 | |
pharmgkb | rs397509277 |
gwascentral | rs397509277 |
openSNP | rs397509277 |
23andMe | rs397509277 |
SNPshot | rs397509277 |
SNPdbe | rs397509277 |
MSV3d | rs397509277 |
GWAS Ctlg | rs397509277 |
Max Magnitude | 6 |
aka c.5406+1_5406+3delGTA
ClinVar | |
---|---|
Risk | rs397509277(-;-) |
Alt | rs397509277(-;-) |
Reference | Rs397509277(GTA;GTA) |
Significance | Pathogenic |
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.41201135_41201137delTAC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048973.2, RCV000112633.1, |