rs876658555
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs876658555(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32337424 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs876658555 |
dbSNP (classic) | rs876658555 |
ClinGen | rs876658555 |
ebi | rs876658555 |
HLI | rs876658555 |
Exac | rs876658555 |
Gnomad | rs876658555 |
Varsome | rs876658555 |
LitVar | rs876658555 |
Map | rs876658555 |
PheGenI | rs876658555 |
Biobank | rs876658555 |
1000 genomes | rs876658555 |
hgdp | rs876658555 |
ensembl | rs876658555 |
geneview | rs876658555 |
scholar | rs876658555 |
rs876658555 | |
pharmgkb | rs876658555 |
gwascentral | rs876658555 |
openSNP | rs876658555 |
23andMe | rs876658555 |
SNPshot | rs876658555 |
SNPdbe | rs876658555 |
MSV3d | rs876658555 |
GWAS Ctlg | rs876658555 |
Max Magnitude | 6 |
aka c.3069delC (p.Asn1023fs)
ClinVar | |
---|---|
Risk | rs876658555(-;-) |
Alt | rs876658555(-;-) |
Reference | Rs876658555(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32911561delC |
CLNSRC | |
CLNACC | RCV000216603.1, |