rs180177085
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 7 | Fanconi anemia, complementation group N |
(-;T) | 3 | 2-4 fold higher risk for breast cancer, depending on family history |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23636151 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177085 |
dbSNP (classic) | rs180177085 |
ClinGen | rs180177085 |
ebi | rs180177085 |
HLI | rs180177085 |
Exac | rs180177085 |
Gnomad | rs180177085 |
Varsome | rs180177085 |
LitVar | rs180177085 |
Map | rs180177085 |
PheGenI | rs180177085 |
Biobank | rs180177085 |
1000 genomes | rs180177085 |
hgdp | rs180177085 |
ensembl | rs180177085 |
geneview | rs180177085 |
scholar | rs180177085 |
rs180177085 | |
pharmgkb | rs180177085 |
gwascentral | rs180177085 |
openSNP | rs180177085 |
23andMe | rs180177085 |
SNPshot | rs180177085 |
SNPdbe | rs180177085 |
MSV3d | rs180177085 |
GWAS Ctlg | rs180177085 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs180177085(-;-) |
Alt | Rs180177085(-;-) |
Reference | Rs180177085(T;T) |
Significance | Pathogenic |
Disease | Fanconi anemia |
Variation | info |
Gene | PALB2 |
CLNDBN | Fanconi anemia, complementation group N |
Reversed | 1 |
HGVS | NC_000016.9:g.23647472delA |
CLNSRC | PALB2 database |
CLNACC | RCV000114636.1, |
[PMID 17200671] Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.