rs515726067
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;C) | 5 | PALB2-related cancer risk |
(C;C) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23635229 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs515726067 |
dbSNP (classic) | rs515726067 |
ClinGen | rs515726067 |
ebi | rs515726067 |
HLI | rs515726067 |
Exac | rs515726067 |
Gnomad | rs515726067 |
Varsome | rs515726067 |
LitVar | rs515726067 |
Map | rs515726067 |
PheGenI | rs515726067 |
Biobank | rs515726067 |
1000 genomes | rs515726067 |
hgdp | rs515726067 |
ensembl | rs515726067 |
geneview | rs515726067 |
scholar | rs515726067 |
rs515726067 | |
pharmgkb | rs515726067 |
gwascentral | rs515726067 |
openSNP | rs515726067 |
23andMe | rs515726067 |
SNPshot | rs515726067 |
SNPdbe | rs515726067 |
MSV3d | rs515726067 |
GWAS Ctlg | rs515726067 |
Max Magnitude | 7 |
[PMID 25099575] Breast-Cancer Risk in Families with Mutations in PALB2
see also ClinVar (where clinical significance = pathogenic)
ClinVar | |
---|---|
Risk | Rs515726067(-;-) |
Alt | Rs515726067(-;-) |
Reference | Rs515726067(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.23646550delC |
CLNSRC | PALB2 database |
CLNACC | RCV000114470.5, RCV000129522.6, RCV000212789.3, |