rs515726124
From SNPedia
Merged into | rs515726123 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;TC) | 3 | significantly increased risk of breast cancer |
(TC;TC) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23636036 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs515726124 |
dbSNP (classic) | rs515726124 |
ClinGen | rs515726124 |
ebi | rs515726124 |
HLI | rs515726124 |
Exac | rs515726124 |
Gnomad | rs515726124 |
Varsome | rs515726124 |
LitVar | rs515726124 |
Map | rs515726124 |
PheGenI | rs515726124 |
Biobank | rs515726124 |
1000 genomes | rs515726124 |
hgdp | rs515726124 |
ensembl | rs515726124 |
geneview | rs515726124 |
scholar | rs515726124 |
rs515726124 | |
pharmgkb | rs515726124 |
gwascentral | rs515726124 |
openSNP | rs515726124 |
23andMe | rs515726124 |
SNPshot | rs515726124 |
SNPdbe | rs515726124 |
MSV3d | rs515726124 |
GWAS Ctlg | rs515726124 |
Status | Merged into rs515726123 |
Max Magnitude | 7 |
[PMID 25099575] Breast-Cancer Risk in Families with Mutations in PALB2
see also ClinVar (where clinical significance = pathogenic) and [PMID 20122277]
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs515726124(TC;TC) |
Significance | Pathogenic |
Disease | Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.23647357_23647358delTC |
CLNSRC | PALB2 database |
CLNACC | RCV000114645.5, RCV000114646.1, RCV000130658.6, RCV000212776.2, |