rs397507331
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GACAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(GACAT;GACAT) | 0 | common in clinvar |
(TGACA;TGACA) | 0 | common in clinvar |
Make rs397507331(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338760 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507331 |
dbSNP (classic) | rs397507331 |
ClinGen | rs397507331 |
ebi | rs397507331 |
HLI | rs397507331 |
Exac | rs397507331 |
Gnomad | rs397507331 |
Varsome | rs397507331 |
LitVar | rs397507331 |
Map | rs397507331 |
PheGenI | rs397507331 |
Biobank | rs397507331 |
1000 genomes | rs397507331 |
hgdp | rs397507331 |
ensembl | rs397507331 |
geneview | rs397507331 |
scholar | rs397507331 |
rs397507331 | |
pharmgkb | rs397507331 |
gwascentral | rs397507331 |
openSNP | rs397507331 |
23andMe | rs397507331 |
SNPshot | rs397507331 |
SNPdbe | rs397507331 |
MSV3d | rs397507331 |
GWAS Ctlg | rs397507331 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397507331(-;-) |
Alt | rs397507331(-;-) |
Reference | Rs397507331(TGACA;TGACA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 not provided Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32912897_32912901delGACAT |
CLNSRC | ClinVar |
CLNACC | RCV000031480.8, RCV000160289.2, RCV000257920.2, |