rs180177103
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5 | PALB2-related cancer risk |
(T;T) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23634913 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177103 |
dbSNP (classic) | rs180177103 |
ClinGen | rs180177103 |
ebi | rs180177103 |
HLI | rs180177103 |
Exac | rs180177103 |
Gnomad | rs180177103 |
Varsome | rs180177103 |
LitVar | rs180177103 |
Map | rs180177103 |
PheGenI | rs180177103 |
Biobank | rs180177103 |
1000 genomes | rs180177103 |
hgdp | rs180177103 |
ensembl | rs180177103 |
geneview | rs180177103 |
scholar | rs180177103 |
rs180177103 | |
pharmgkb | rs180177103 |
gwascentral | rs180177103 |
openSNP | rs180177103 |
23andMe | rs180177103 |
SNPshot | rs180177103 |
SNPdbe | rs180177103 |
MSV3d | rs180177103 |
GWAS Ctlg | rs180177103 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs180177103(T;T) |
Alt | Rs180177103(T;T) |
Reference | Rs180177103(G;G) |
Significance | Pathogenic |
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.23646234C>A |
CLNSRC | PALB2 database |
CLNACC | RCV000114484.1, RCV000131237.4, RCV000255843.1, |
[PMID 21165770] PALB2 mutations in German and Russian patients with bilateral breast cancer.