rs515726099
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | significantly increased risk of breast cancer |
(C;T) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23623131 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs515726099 |
dbSNP (classic) | rs515726099 |
ClinGen | rs515726099 |
ebi | rs515726099 |
HLI | rs515726099 |
Exac | rs515726099 |
Gnomad | rs515726099 |
Varsome | rs515726099 |
LitVar | rs515726099 |
Map | rs515726099 |
PheGenI | rs515726099 |
Biobank | rs515726099 |
1000 genomes | rs515726099 |
hgdp | rs515726099 |
ensembl | rs515726099 |
geneview | rs515726099 |
scholar | rs515726099 |
rs515726099 | |
pharmgkb | rs515726099 |
gwascentral | rs515726099 |
openSNP | rs515726099 |
23andMe | rs515726099 |
SNPshot | rs515726099 |
SNPdbe | rs515726099 |
MSV3d | rs515726099 |
GWAS Ctlg | rs515726099 |
Max Magnitude | 3 |
[PMID 25099575] Breast-Cancer Risk in Families with Mutations in PALB2
ClinVar | |
---|---|
Risk | Rs515726099(C;C) rs515726099(T;T) |
Alt | Rs515726099(C;C) rs515726099(T;T) |
Reference | Rs515726099(G;G) |
Significance | Probable-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 | 1 |
HGVS | NC_000016.9:g.23634452C>G; NC_000016.9:g.23634452C>T |
CLNSRC | PALB2 database |
CLNACC | RCV000114567.4, RCV000220116.1, RCV000168057.1, RCV000255033.1, RCV000454148.1, |