rs397507339
From SNPedia
Merged into | rs80359464 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
Make rs397507339(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32339067 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507339 |
dbSNP (classic) | rs397507339 |
ClinGen | rs397507339 |
ebi | rs397507339 |
HLI | rs397507339 |
Exac | rs397507339 |
Gnomad | rs397507339 |
Varsome | rs397507339 |
LitVar | rs397507339 |
Map | rs397507339 |
PheGenI | rs397507339 |
Biobank | rs397507339 |
1000 genomes | rs397507339 |
hgdp | rs397507339 |
ensembl | rs397507339 |
geneview | rs397507339 |
scholar | rs397507339 |
rs397507339 | |
pharmgkb | rs397507339 |
gwascentral | rs397507339 |
openSNP | rs397507339 |
23andMe | rs397507339 |
SNPshot | rs397507339 |
SNPdbe | rs397507339 |
MSV3d | rs397507339 |
GWAS Ctlg | rs397507339 |
Status | Merged into rs80359464 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs397507339(AG;AG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32913204_32913205delAG |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031500.8, RCV000044474.2, RCV000164613.2, RCV000213951.1, RCV000257921.1, |