rs587782570
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.p2 38.2/144 |
Chromosome | 16 |
Position | 23623033 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782570 |
dbSNP (classic) | rs587782570 |
ClinGen | rs587782570 |
ebi | rs587782570 |
HLI | rs587782570 |
Exac | rs587782570 |
Gnomad | rs587782570 |
Varsome | rs587782570 |
LitVar | rs587782570 |
Map | rs587782570 |
PheGenI | rs587782570 |
Biobank | rs587782570 |
1000 genomes | rs587782570 |
hgdp | rs587782570 |
ensembl | rs587782570 |
geneview | rs587782570 |
scholar | rs587782570 |
rs587782570 | |
pharmgkb | rs587782570 |
gwascentral | rs587782570 |
openSNP | rs587782570 |
23andMe | rs587782570 |
SNPshot | rs587782570 |
SNPdbe | rs587782570 |
MSV3d | rs587782570 |
GWAS Ctlg | rs587782570 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs587782570(A;A) |
Alt | Rs587782570(A;A) |
Reference | Rs587782570(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Hereditary cancer-predisposing syndrome Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23634355dupT |
CLNSRC | |
CLNACC | RCV000131794.3, RCV000195468.3, RCV000222458.1, RCV000235842.1, |