rs397507584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs397507584(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32332867 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507584 |
dbSNP (classic) | rs397507584 |
ClinGen | rs397507584 |
ebi | rs397507584 |
HLI | rs397507584 |
Exac | rs397507584 |
Gnomad | rs397507584 |
Varsome | rs397507584 |
LitVar | rs397507584 |
Map | rs397507584 |
PheGenI | rs397507584 |
Biobank | rs397507584 |
1000 genomes | rs397507584 |
hgdp | rs397507584 |
ensembl | rs397507584 |
geneview | rs397507584 |
scholar | rs397507584 |
rs397507584 | |
pharmgkb | rs397507584 |
gwascentral | rs397507584 |
openSNP | rs397507584 |
23andMe | rs397507584 |
SNPshot | rs397507584 |
SNPdbe | rs397507584 |
MSV3d | rs397507584 |
GWAS Ctlg | rs397507584 |
Max Magnitude | 6 |
aka c.1389delA (p.Val464fs)
ClinVar | |
---|---|
Risk | rs397507584(-;-) |
Alt | rs397507584(-;-) |
Reference | Rs397507584(A;A) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32907004delA |
CLNSRC | ClinVar |
CLNACC | RCV000043795.2, |