rs180177111
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 | 23629831 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177111 |
dbSNP (classic) | rs180177111 |
ClinGen | rs180177111 |
ebi | rs180177111 |
HLI | rs180177111 |
Exac | rs180177111 |
Gnomad | rs180177111 |
Varsome | rs180177111 |
LitVar | rs180177111 |
Map | rs180177111 |
PheGenI | rs180177111 |
Biobank | rs180177111 |
1000 genomes | rs180177111 |
hgdp | rs180177111 |
ensembl | rs180177111 |
geneview | rs180177111 |
scholar | rs180177111 |
rs180177111 | |
pharmgkb | rs180177111 |
gwascentral | rs180177111 |
openSNP | rs180177111 |
23andMe | rs180177111 |
SNPshot | rs180177111 |
SNPdbe | rs180177111 |
MSV3d | rs180177111 |
GWAS Ctlg | rs180177111 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs180177111(T;T) |
Alt | Rs180177111(T;T) |
Reference | Rs180177111(C;C) |
Significance | Other |
Disease | Familial cancer of breast Breast cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000016.9:g.23641152G>A |
CLNSRC | OMIM Allelic Variant PALB2 database |
CLNACC | RCV000114521.6, RCV000144702.3, RCV000164897.2, RCV000413982.1, |
[PMID 18053174] Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.
[PMID 19863560] The contribution of founder mutations to early-onset breast cancer in French-Canadian women.