rs515726060
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;TGTT) | 5 | PALB2-related cancer risk |
(TGTT;TGTT) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 23635493 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs515726060 |
dbSNP (classic) | rs515726060 |
ClinGen | rs515726060 |
ebi | rs515726060 |
HLI | rs515726060 |
Exac | rs515726060 |
Gnomad | rs515726060 |
Varsome | rs515726060 |
LitVar | rs515726060 |
Map | rs515726060 |
PheGenI | rs515726060 |
Biobank | rs515726060 |
1000 genomes | rs515726060 |
hgdp | rs515726060 |
ensembl | rs515726060 |
geneview | rs515726060 |
scholar | rs515726060 |
rs515726060 | |
pharmgkb | rs515726060 |
gwascentral | rs515726060 |
openSNP | rs515726060 |
23andMe | rs515726060 |
SNPshot | rs515726060 |
SNPdbe | rs515726060 |
MSV3d | rs515726060 |
GWAS Ctlg | rs515726060 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs515726060(-;-) |
Alt | Rs515726060(-;-) |
Reference | Rs515726060(TGTT;TGTT) |
Significance | Pathogenic |
Disease | Neoplasm of ovary Hereditary cancer-predisposing syndrome Familial cancer of breast not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Neoplasm of ovary Hereditary cancer-predisposing syndrome Familial cancer of breast not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.23646814_23646817delTGTT |
CLNSRC | PALB2 database |
CLNACC | RCV000114456.1, RCV000129806.3, RCV000470398.1, RCV000483096.1, |