rs515726123
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;CT) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
(-;TC) | 5 | PALB2-related cancer risk |
(CT;CT) | 0 | common/normal |
(TC;TC) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23636037 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs515726123 |
dbSNP (classic) | rs515726123 |
ClinGen | rs515726123 |
ebi | rs515726123 |
HLI | rs515726123 |
Exac | rs515726123 |
Gnomad | rs515726123 |
Varsome | rs515726123 |
LitVar | rs515726123 |
Map | rs515726123 |
PheGenI | rs515726123 |
Biobank | rs515726123 |
1000 genomes | rs515726123 |
hgdp | rs515726123 |
ensembl | rs515726123 |
geneview | rs515726123 |
scholar | rs515726123 |
rs515726123 | |
pharmgkb | rs515726123 |
gwascentral | rs515726123 |
openSNP | rs515726123 |
23andMe | rs515726123 |
SNPshot | rs515726123 |
SNPdbe | rs515726123 |
MSV3d | rs515726123 |
GWAS Ctlg | rs515726123 |
Merged from | Rs515726124 |
Max Magnitude | 7 |
[PMID 25099575] Breast-Cancer Risk in Families with Mutations in PALB2
see also ClinVar (where clinical significance = pathogenic)
ClinVar | |
---|---|
Risk | Rs515726123(-;-) Rs515726123(TC;TC) |
Alt | Rs515726123(-;-) Rs515726123(TC;TC) |
Reference | Rs515726123(CT;CT) |
Significance | Pathogenic |
Disease | Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided PALB2-Related Disorders |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided PALB2-Related Disorders |
Reversed | 0 |
HGVS | NC_000016.9:g.23647357_23647358delTC |
CLNSRC | PALB2 database |
CLNACC | RCV000114645.6, RCV000114646.1, RCV000130658.7, RCV000212776.2, RCV000363454.1, |