rs397507209
From SNPedia
Merged into | rs273899699 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs397507209(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092422 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507209 |
dbSNP (classic) | rs397507209 |
ClinGen | rs397507209 |
ebi | rs397507209 |
HLI | rs397507209 |
Exac | rs397507209 |
Gnomad | rs397507209 |
Varsome | rs397507209 |
LitVar | rs397507209 |
Map | rs397507209 |
PheGenI | rs397507209 |
Biobank | rs397507209 |
1000 genomes | rs397507209 |
hgdp | rs397507209 |
ensembl | rs397507209 |
geneview | rs397507209 |
scholar | rs397507209 |
rs397507209 | |
pharmgkb | rs397507209 |
gwascentral | rs397507209 |
openSNP | rs397507209 |
23andMe | rs397507209 |
SNPshot | rs397507209 |
SNPdbe | rs397507209 |
MSV3d | rs397507209 |
GWAS Ctlg | rs397507209 |
Status | Merged into rs273899699 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397507209(T;T) |
Alt | rs397507209(T;T) |
Reference | Rs397507209(;) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41244440dupA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031089.6, RCV000048072.2, RCV000130035.2, |