rs587782005
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 5 | PALB2-related cancer risk |
(T;T) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 23636122 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782005 |
dbSNP (classic) | rs587782005 |
ClinGen | rs587782005 |
ebi | rs587782005 |
HLI | rs587782005 |
Exac | rs587782005 |
Gnomad | rs587782005 |
Varsome | rs587782005 |
LitVar | rs587782005 |
Map | rs587782005 |
PheGenI | rs587782005 |
Biobank | rs587782005 |
1000 genomes | rs587782005 |
hgdp | rs587782005 |
ensembl | rs587782005 |
geneview | rs587782005 |
scholar | rs587782005 |
rs587782005 | |
pharmgkb | rs587782005 |
gwascentral | rs587782005 |
openSNP | rs587782005 |
23andMe | rs587782005 |
SNPshot | rs587782005 |
SNPdbe | rs587782005 |
MSV3d | rs587782005 |
GWAS Ctlg | rs587782005 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs587782005(T;T) |
Alt | Rs587782005(T;T) |
Reference | Rs587782005(A;A) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
Variation | info |
Gene | PALB2 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000016.9:g.23647443T>A |
CLNSRC | |
CLNACC | RCV000130421.4, RCV000412725.1, RCV000476449.1, |