rs587782443
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;A) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
(A;A) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 23636320 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782443 |
dbSNP (classic) | rs587782443 |
ClinGen | rs587782443 |
ebi | rs587782443 |
HLI | rs587782443 |
Exac | rs587782443 |
Gnomad | rs587782443 |
Varsome | rs587782443 |
LitVar | rs587782443 |
Map | rs587782443 |
PheGenI | rs587782443 |
Biobank | rs587782443 |
1000 genomes | rs587782443 |
hgdp | rs587782443 |
ensembl | rs587782443 |
geneview | rs587782443 |
scholar | rs587782443 |
rs587782443 | |
pharmgkb | rs587782443 |
gwascentral | rs587782443 |
openSNP | rs587782443 |
23andMe | rs587782443 |
SNPshot | rs587782443 |
SNPdbe | rs587782443 |
MSV3d | rs587782443 |
GWAS Ctlg | rs587782443 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs587782443(-;-) |
Alt | Rs587782443(-;-) |
Reference | Rs587782443(A;A) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations not provided Familial cancer of breast |
Variation | info |
Gene | PALB2 |
CLNDBN | Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations not provided Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000016.9:g.23647641delT |
CLNSRC | |
CLNACC | RCV000131508.4, RCV000216043.1, RCV000254673.1, RCV000411345.1, |