rs587781662
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CG;CG) | 7 | Fanconi anemia, complementation group N |
(CG;T) | 5 | PALB2-related cancer risk |
(T;T) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 16 |
Position | 23641132 |
Gene | DCTN5, PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587781662 |
dbSNP (classic) | rs587781662 |
ClinGen | rs587781662 |
ebi | rs587781662 |
HLI | rs587781662 |
Exac | rs587781662 |
Gnomad | rs587781662 |
Varsome | rs587781662 |
LitVar | rs587781662 |
Map | rs587781662 |
PheGenI | rs587781662 |
Biobank | rs587781662 |
1000 genomes | rs587781662 |
hgdp | rs587781662 |
ensembl | rs587781662 |
geneview | rs587781662 |
scholar | rs587781662 |
rs587781662 | |
pharmgkb | rs587781662 |
gwascentral | rs587781662 |
openSNP | rs587781662 |
23andMe | rs587781662 |
SNPshot | rs587781662 |
SNPdbe | rs587781662 |
MSV3d | rs587781662 |
GWAS Ctlg | rs587781662 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs587781662(CG;CG) |
Alt | Rs587781662(CG;CG) |
Reference | Rs587781662(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PALB2 DCTN5 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.23652453delAinsCG |
CLNSRC | |
CLNACC | RCV000129810.2, |