rs587776425
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common/normal |
(-;A) | 5 | PALB2-related cancer risk |
(A;A) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 23603593 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776425 |
dbSNP (classic) | rs587776425 |
ClinGen | rs587776425 |
ebi | rs587776425 |
HLI | rs587776425 |
Exac | rs587776425 |
Gnomad | rs587776425 |
Varsome | rs587776425 |
LitVar | rs587776425 |
Map | rs587776425 |
PheGenI | rs587776425 |
Biobank | rs587776425 |
1000 genomes | rs587776425 |
hgdp | rs587776425 |
ensembl | rs587776425 |
geneview | rs587776425 |
scholar | rs587776425 |
rs587776425 | |
pharmgkb | rs587776425 |
gwascentral | rs587776425 |
openSNP | rs587776425 |
23andMe | rs587776425 |
SNPshot | rs587776425 |
SNPdbe | rs587776425 |
MSV3d | rs587776425 |
GWAS Ctlg | rs587776425 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs587776425(A;A) |
Alt | Rs587776425(A;A) |
Reference | Rs587776425(-;-) |
Significance | Pathogenic |
Disease | not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PALB2 |
CLNDBN | not provided Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.23614915dupT |
CLNSRC | ClinVar |
CLNACC | RCV000133487.1, RCV000195604.1, RCV000454197.1, |