rs587776423
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 7 | Fanconi anemia, complementation group N |
(C;G) | 3 | significantly increased risk of breast cancer |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 23614003 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs587776423 |
dbSNP (classic) | rs587776423 |
ClinGen | rs587776423 |
ebi | rs587776423 |
HLI | rs587776423 |
Exac | rs587776423 |
Gnomad | rs587776423 |
Varsome | rs587776423 |
LitVar | rs587776423 |
Map | rs587776423 |
PheGenI | rs587776423 |
Biobank | rs587776423 |
1000 genomes | rs587776423 |
hgdp | rs587776423 |
ensembl | rs587776423 |
geneview | rs587776423 |
scholar | rs587776423 |
rs587776423 | |
pharmgkb | rs587776423 |
gwascentral | rs587776423 |
openSNP | rs587776423 |
23andMe | rs587776423 |
SNPshot | rs587776423 |
SNPdbe | rs587776423 |
MSV3d | rs587776423 |
GWAS Ctlg | rs587776423 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs587776423(C;C) rs587776423(T;T) |
Alt | Rs587776423(C;C) rs587776423(T;T) |
Reference | Rs587776423(G;G) |
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.23625324C>A; NC_000016.9:g.23625324C>G |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000130058.2, RCV000133485.1, RCV000164723.1, RCV000230297.1, |