rs730881606
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs730881606(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32338467 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881606 |
dbSNP (classic) | rs730881606 |
ClinGen | rs730881606 |
ebi | rs730881606 |
HLI | rs730881606 |
Exac | rs730881606 |
Gnomad | rs730881606 |
Varsome | rs730881606 |
LitVar | rs730881606 |
Map | rs730881606 |
PheGenI | rs730881606 |
Biobank | rs730881606 |
1000 genomes | rs730881606 |
hgdp | rs730881606 |
ensembl | rs730881606 |
geneview | rs730881606 |
scholar | rs730881606 |
rs730881606 | |
pharmgkb | rs730881606 |
gwascentral | rs730881606 |
openSNP | rs730881606 |
23andMe | rs730881606 |
SNPshot | rs730881606 |
SNPdbe | rs730881606 |
MSV3d | rs730881606 |
GWAS Ctlg | rs730881606 |
Max Magnitude | 6 |
aka c.4112dupA (p.Phe1372Valfs)
ClinVar | |
---|---|
Risk | rs730881606(A;A) |
Alt | rs730881606(A;A) |
Reference | Rs730881606(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32912604dupA |
CLNSRC | |
CLNACC | RCV000160283.1, RCV000241115.1, |