rs515726073
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 7 | Fanconi anemia, complementation group N |
(C;TT) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
(TT;TT) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 23634869 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs515726073 |
dbSNP (classic) | rs515726073 |
ClinGen | rs515726073 |
ebi | rs515726073 |
HLI | rs515726073 |
Exac | rs515726073 |
Gnomad | rs515726073 |
Varsome | rs515726073 |
LitVar | rs515726073 |
Map | rs515726073 |
PheGenI | rs515726073 |
Biobank | rs515726073 |
1000 genomes | rs515726073 |
hgdp | rs515726073 |
ensembl | rs515726073 |
geneview | rs515726073 |
scholar | rs515726073 |
rs515726073 | |
pharmgkb | rs515726073 |
gwascentral | rs515726073 |
openSNP | rs515726073 |
23andMe | rs515726073 |
SNPshot | rs515726073 |
SNPdbe | rs515726073 |
MSV3d | rs515726073 |
GWAS Ctlg | rs515726073 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs515726073(C;C) |
Alt | Rs515726073(C;C) |
Reference | Rs515726073(TT;TT) |
Significance | Pathogenic |
Disease | Fanconi anemia not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Fanconi anemia, complementation group N not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.23646190_23646191delTTinsC |
CLNSRC | PALB2 database |
CLNACC | RCV000114487.1, RCV000478479.1, |