rs180177083
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | increased risk of breast cancer |
(T;T) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23637865 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177083 |
dbSNP (classic) | rs180177083 |
ClinGen | rs180177083 |
ebi | rs180177083 |
HLI | rs180177083 |
Exac | rs180177083 |
Gnomad | rs180177083 |
Varsome | rs180177083 |
LitVar | rs180177083 |
Map | rs180177083 |
PheGenI | rs180177083 |
Biobank | rs180177083 |
1000 genomes | rs180177083 |
hgdp | rs180177083 |
ensembl | rs180177083 |
geneview | rs180177083 |
scholar | rs180177083 |
rs180177083 | |
pharmgkb | rs180177083 |
gwascentral | rs180177083 |
openSNP | rs180177083 |
23andMe | rs180177083 |
SNPshot | rs180177083 |
SNPdbe | rs180177083 |
MSV3d | rs180177083 |
GWAS Ctlg | rs180177083 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs180177083(A;A) Rs180177083(T;T) |
Alt | rs180177083(A;A) Rs180177083(T;T) |
Reference | Rs180177083(C;C) |
Significance | Other |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23649186G>A |
CLNSRC | PALB2 database |
CLNACC | RCV000114503.6, RCV000163078.2, RCV000235795.2, |
[PMID 21285249] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
[PMID 21409391] BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.