rs397507623
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;AGAG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
Make rs397507623(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32316482 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507623 |
dbSNP (classic) | rs397507623 |
ClinGen | rs397507623 |
ebi | rs397507623 |
HLI | rs397507623 |
Exac | rs397507623 |
Gnomad | rs397507623 |
Varsome | rs397507623 |
LitVar | rs397507623 |
Map | rs397507623 |
PheGenI | rs397507623 |
Biobank | rs397507623 |
1000 genomes | rs397507623 |
hgdp | rs397507623 |
ensembl | rs397507623 |
geneview | rs397507623 |
scholar | rs397507623 |
rs397507623 | |
pharmgkb | rs397507623 |
gwascentral | rs397507623 |
openSNP | rs397507623 |
23andMe | rs397507623 |
SNPshot | rs397507623 |
SNPdbe | rs397507623 |
MSV3d | rs397507623 |
GWAS Ctlg | rs397507623 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397507623(-;-) |
Alt | rs397507623(-;-) |
Reference | Rs397507623(AG;AG) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32890619_32890620delAG |
CLNSRC | ClinVar |
CLNACC | RCV000043971.3, RCV000083090.4, |