rs515726091
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
(A;A) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23626298 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs515726091 |
dbSNP (classic) | rs515726091 |
ClinGen | rs515726091 |
ebi | rs515726091 |
HLI | rs515726091 |
Exac | rs515726091 |
Gnomad | rs515726091 |
Varsome | rs515726091 |
LitVar | rs515726091 |
Map | rs515726091 |
PheGenI | rs515726091 |
Biobank | rs515726091 |
1000 genomes | rs515726091 |
hgdp | rs515726091 |
ensembl | rs515726091 |
geneview | rs515726091 |
scholar | rs515726091 |
rs515726091 | |
pharmgkb | rs515726091 |
gwascentral | rs515726091 |
openSNP | rs515726091 |
23andMe | rs515726091 |
SNPshot | rs515726091 |
SNPdbe | rs515726091 |
MSV3d | rs515726091 |
GWAS Ctlg | rs515726091 |
Merged from | Rs180177121 |
Max Magnitude | 7 |
[PMID 25099575] Breast-Cancer Risk in Families with Mutations in PALB2
see also ClinVar (where clinical significance = pathogenic)
ClinVar | |
---|---|
Risk | Rs515726091(A;A) |
Alt | Rs515726091(A;A) |
Reference | Rs515726091(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.23637619dupA |
CLNSRC | PALB2 database |
CLNACC | RCV000114550.1, RCV000486793.1, |