rs180177127
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common/normal |
(-;T) | 3 | increased risk for breast cancer |
(T;T) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23622982 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177127 |
dbSNP (classic) | rs180177127 |
ClinGen | rs180177127 |
ebi | rs180177127 |
HLI | rs180177127 |
Exac | rs180177127 |
Gnomad | rs180177127 |
Varsome | rs180177127 |
LitVar | rs180177127 |
Map | rs180177127 |
PheGenI | rs180177127 |
Biobank | rs180177127 |
1000 genomes | rs180177127 |
hgdp | rs180177127 |
ensembl | rs180177127 |
geneview | rs180177127 |
scholar | rs180177127 |
rs180177127 | |
pharmgkb | rs180177127 |
gwascentral | rs180177127 |
openSNP | rs180177127 |
23andMe | rs180177127 |
SNPshot | rs180177127 |
SNPdbe | rs180177127 |
MSV3d | rs180177127 |
GWAS Ctlg | rs180177127 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs180177127(T;T) |
Alt | Rs180177127(T;T) |
Reference | Rs180177127(-;-) |
Significance | Other |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.23634304dupA |
CLNSRC | PALB2 database |
CLNACC | RCV000114576.4, RCV000213482.2, |
[PMID 17200668] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.