rs397507719
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs397507719(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338795 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507719 |
dbSNP (classic) | rs397507719 |
ClinGen | rs397507719 |
ebi | rs397507719 |
HLI | rs397507719 |
Exac | rs397507719 |
Gnomad | rs397507719 |
Varsome | rs397507719 |
LitVar | rs397507719 |
Map | rs397507719 |
PheGenI | rs397507719 |
Biobank | rs397507719 |
1000 genomes | rs397507719 |
hgdp | rs397507719 |
ensembl | rs397507719 |
geneview | rs397507719 |
scholar | rs397507719 |
rs397507719 | |
pharmgkb | rs397507719 |
gwascentral | rs397507719 |
openSNP | rs397507719 |
23andMe | rs397507719 |
SNPshot | rs397507719 |
SNPdbe | rs397507719 |
MSV3d | rs397507719 |
GWAS Ctlg | rs397507719 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397507719(C;C) rs397507719(G;G) |
Alt | rs397507719(C;C) rs397507719(G;G) |
Reference | Rs397507719(T;T) |
Significance | Pathogenic |
Disease | not specified Familial cancer of breast not provided Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | not specified Familial cancer of breast not provided Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32912932T>C; NC_000013.10:g.32912932T>G |
CLNSRC | ClinVar |
CLNACC | RCV000435177.1, RCV000044415.2, RCV000222409.1, RCV000225483.2, |