rs515726118
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
(C;T) | 5 | PALB2-related cancer risk |
(G;G) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 23641109 |
Gene | DCTN5, PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs515726118 |
dbSNP (classic) | rs515726118 |
ClinGen | rs515726118 |
ebi | rs515726118 |
HLI | rs515726118 |
Exac | rs515726118 |
Gnomad | rs515726118 |
Varsome | rs515726118 |
LitVar | rs515726118 |
Map | rs515726118 |
PheGenI | rs515726118 |
Biobank | rs515726118 |
1000 genomes | rs515726118 |
hgdp | rs515726118 |
ensembl | rs515726118 |
geneview | rs515726118 |
scholar | rs515726118 |
rs515726118 | |
pharmgkb | rs515726118 |
gwascentral | rs515726118 |
openSNP | rs515726118 |
23andMe | rs515726118 |
SNPshot | rs515726118 |
SNPdbe | rs515726118 |
MSV3d | rs515726118 |
GWAS Ctlg | rs515726118 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs515726118(G;G) |
Alt | Rs515726118(G;G) |
Reference | Rs515726118(C;C) |
Significance | Probable-Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome not specified |
Variation | info |
Gene | PALB2 DCTN5 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome not specified |
Reversed | 0 |
HGVS | NC_000016.9:g.23652430C>G |
CLNSRC | PALB2 database |
CLNACC | RCV000114638.1, RCV000213648.1, RCV000236723.1, |