rs863224521
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common/normal |
(-;T) | 5 | PALB2-related cancer risk |
(T;T) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 23629683 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224521 |
dbSNP (classic) | rs863224521 |
ClinGen | rs863224521 |
ebi | rs863224521 |
HLI | rs863224521 |
Exac | rs863224521 |
Gnomad | rs863224521 |
Varsome | rs863224521 |
LitVar | rs863224521 |
Map | rs863224521 |
PheGenI | rs863224521 |
Biobank | rs863224521 |
1000 genomes | rs863224521 |
hgdp | rs863224521 |
ensembl | rs863224521 |
geneview | rs863224521 |
scholar | rs863224521 |
rs863224521 | |
pharmgkb | rs863224521 |
gwascentral | rs863224521 |
openSNP | rs863224521 |
23andMe | rs863224521 |
SNPshot | rs863224521 |
SNPdbe | rs863224521 |
MSV3d | rs863224521 |
GWAS Ctlg | rs863224521 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs863224521(T;T) |
Alt | Rs863224521(T;T) |
Reference | Rs863224521(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.23641005dupA |
CLNSRC | |
CLNACC | RCV000199043.2, RCV000215206.1, |