rs180177121
From SNPedia
Merged into | rs515726091 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common/normal |
(-;T) | 3 | increased risk of breast cancer |
(T;T) | 7 | Fanconi anemia, complementation group N |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 23626297 |
Gene | PALB2 |
is a | snp |
is | mentioned by |
dbSNP | rs180177121 |
dbSNP (classic) | rs180177121 |
ClinGen | rs180177121 |
ebi | rs180177121 |
HLI | rs180177121 |
Exac | rs180177121 |
Gnomad | rs180177121 |
Varsome | rs180177121 |
LitVar | rs180177121 |
Map | rs180177121 |
PheGenI | rs180177121 |
Biobank | rs180177121 |
1000 genomes | rs180177121 |
hgdp | rs180177121 |
ensembl | rs180177121 |
geneview | rs180177121 |
scholar | rs180177121 |
rs180177121 | |
pharmgkb | rs180177121 |
gwascentral | rs180177121 |
openSNP | rs180177121 |
23andMe | rs180177121 |
SNPshot | rs180177121 |
SNPdbe | rs180177121 |
MSV3d | rs180177121 |
GWAS Ctlg | rs180177121 |
Status | Merged into rs515726091 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | Rs180177121(T;T) |
Alt | Rs180177121(T;T) |
Reference | Rs180177121(;) |
Significance | Pathogenic |
Disease | Familial cancer of breast |
Variation | info |
Gene | PALB2 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000016.9:g.23637618_23637619insA |
CLNSRC | |
CLNACC |
[PMID 21285249] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.