rs80359773
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80359773(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32398185 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359773 |
dbSNP (classic) | rs80359773 |
ClinGen | rs80359773 |
ebi | rs80359773 |
HLI | rs80359773 |
Exac | rs80359773 |
Gnomad | rs80359773 |
Varsome | rs80359773 |
LitVar | rs80359773 |
Map | rs80359773 |
PheGenI | rs80359773 |
Biobank | rs80359773 |
1000 genomes | rs80359773 |
hgdp | rs80359773 |
ensembl | rs80359773 |
geneview | rs80359773 |
scholar | rs80359773 |
rs80359773 | |
pharmgkb | rs80359773 |
gwascentral | rs80359773 |
openSNP | rs80359773 |
23andMe | rs80359773 |
SNPshot | rs80359773 |
SNPdbe | rs80359773 |
MSV3d | rs80359773 |
GWAS Ctlg | rs80359773 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80359773(A;A) |
Alt | rs80359773(A;A) |
Reference | Rs80359773(-;-) |
Significance | Pathogenic |
Disease | Fanconi anemia Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Fanconi anemia, complementation group D1 Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32972322dupA |
CLNSRC | Breast Cancer Information Core (BRCA2) OMIM Allelic Variant |
CLNACC | RCV000009922.3, RCV000114151.3, RCV000130631.3, RCV000197712.1, RCV000372727.1, |