rs180177097
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | PALB2-related cancer risk |
(T;T) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23635519 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177097 |
dbSNP (classic) | rs180177097 |
ClinGen | rs180177097 |
ebi | rs180177097 |
HLI | rs180177097 |
Exac | rs180177097 |
Gnomad | rs180177097 |
Varsome | rs180177097 |
LitVar | rs180177097 |
Map | rs180177097 |
PheGenI | rs180177097 |
Biobank | rs180177097 |
1000 genomes | rs180177097 |
hgdp | rs180177097 |
ensembl | rs180177097 |
geneview | rs180177097 |
scholar | rs180177097 |
rs180177097 | |
pharmgkb | rs180177097 |
gwascentral | rs180177097 |
openSNP | rs180177097 |
23andMe | rs180177097 |
SNPshot | rs180177097 |
SNPdbe | rs180177097 |
MSV3d | rs180177097 |
GWAS Ctlg | rs180177097 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs180177097(T;T) |
Alt | Rs180177097(T;T) |
Reference | Rs180177097(C;C) |
Significance | Other |
Disease | Familial cancer of breast Pancreatic cancer 3 Breast cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Pancreatic cancer 3 Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000016.9:g.23646840G>A |
CLNSRC | OMIM Allelic Variant PALB2 database |
CLNACC | RCV000114452.1, RCV000114453.1, RCV000144519.2, RCV000215551.1, |
[PMID 21184274] PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer.