rs180670511
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs180670511(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32341109 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs180670511 |
dbSNP (classic) | rs180670511 |
ClinGen | rs180670511 |
ebi | rs180670511 |
HLI | rs180670511 |
Exac | rs180670511 |
Gnomad | rs180670511 |
Varsome | rs180670511 |
LitVar | rs180670511 |
Map | rs180670511 |
PheGenI | rs180670511 |
Biobank | rs180670511 |
1000 genomes | rs180670511 |
hgdp | rs180670511 |
ensembl | rs180670511 |
geneview | rs180670511 |
scholar | rs180670511 |
rs180670511 | |
pharmgkb | rs180670511 |
gwascentral | rs180670511 |
openSNP | rs180670511 |
23andMe | rs180670511 |
SNPshot | rs180670511 |
SNPdbe | rs180670511 |
MSV3d | rs180670511 |
GWAS Ctlg | rs180670511 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs180670511(T;T) |
Alt | rs180670511(T;T) |
Reference | Rs180670511(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32915246dupT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000045040.2, RCV000113637.3, |