rs587781457
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7 | Fanconi anemia, complementation group N |
(A;G) | 5 | PALB2-related cancer risk |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 23626272 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587781457 |
dbSNP (classic) | rs587781457 |
ClinGen | rs587781457 |
ebi | rs587781457 |
HLI | rs587781457 |
Exac | rs587781457 |
Gnomad | rs587781457 |
Varsome | rs587781457 |
LitVar | rs587781457 |
Map | rs587781457 |
PheGenI | rs587781457 |
Biobank | rs587781457 |
1000 genomes | rs587781457 |
hgdp | rs587781457 |
ensembl | rs587781457 |
geneview | rs587781457 |
scholar | rs587781457 |
rs587781457 | |
pharmgkb | rs587781457 |
gwascentral | rs587781457 |
openSNP | rs587781457 |
23andMe | rs587781457 |
SNPshot | rs587781457 |
SNPdbe | rs587781457 |
MSV3d | rs587781457 |
GWAS Ctlg | rs587781457 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs587781457(A;A) |
Alt | Rs587781457(A;A) |
Reference | Rs587781457(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23637593C>T |
CLNSRC | |
CLNACC | RCV000129390.4, RCV000485246.1, |