rs180177133
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;A) | 3 | increased risk of breast cancer |
(A;A) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23614089 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177133 |
dbSNP (classic) | rs180177133 |
ClinGen | rs180177133 |
ebi | rs180177133 |
HLI | rs180177133 |
Exac | rs180177133 |
Gnomad | rs180177133 |
Varsome | rs180177133 |
LitVar | rs180177133 |
Map | rs180177133 |
PheGenI | rs180177133 |
Biobank | rs180177133 |
1000 genomes | rs180177133 |
hgdp | rs180177133 |
ensembl | rs180177133 |
geneview | rs180177133 |
scholar | rs180177133 |
rs180177133 | |
pharmgkb | rs180177133 |
gwascentral | rs180177133 |
openSNP | rs180177133 |
23andMe | rs180177133 |
SNPshot | rs180177133 |
SNPdbe | rs180177133 |
MSV3d | rs180177133 |
GWAS Ctlg | rs180177133 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs180177133(-;-) |
Alt | Rs180177133(-;-) |
Reference | Rs180177133(A;A) |
Significance | Other |
Disease | Breast cancer Familial cancer of breast Fanconi anemia Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Breast cancer, susceptibility to Familial cancer of breast Fanconi anemia, complementation group N Pancreatic cancer 3 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23625410delT |
CLNSRC | OMIM Allelic Variant PALB2 database |
CLNACC | RCV000001309.2, RCV000114595.4, RCV000114596.2, RCV000114597.3, RCV000131150.4, RCV000235691.2, |
[PMID 17200668] PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
[PMID 18302019] Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.