rs878853567
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 rs878853567(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32337704 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs878853567 |
dbSNP (classic) | rs878853567 |
ClinGen | rs878853567 |
ebi | rs878853567 |
HLI | rs878853567 |
Exac | rs878853567 |
Gnomad | rs878853567 |
Varsome | rs878853567 |
LitVar | rs878853567 |
Map | rs878853567 |
PheGenI | rs878853567 |
Biobank | rs878853567 |
1000 genomes | rs878853567 |
hgdp | rs878853567 |
ensembl | rs878853567 |
geneview | rs878853567 |
scholar | rs878853567 |
rs878853567 | |
pharmgkb | rs878853567 |
gwascentral | rs878853567 |
openSNP | rs878853567 |
23andMe | rs878853567 |
SNPshot | rs878853567 |
SNPdbe | rs878853567 |
MSV3d | rs878853567 |
GWAS Ctlg | rs878853567 |
Max Magnitude | 6 |
aka c.3349delA (p.Ile1117fs)
ClinVar | |
---|---|
Risk | rs878853567(-;-) |
Alt | rs878853567(-;-) |
Reference | Rs878853567(A;A) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32911841delA |
CLNSRC | |
CLNACC | RCV000230586.1, |