rs543304
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 0 | Benign |
(T;T) | 0 | common in clinvar |
Make rs543304(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32338162 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs543304 |
dbSNP (classic) | rs543304 |
ClinGen | rs543304 |
ebi | rs543304 |
HLI | rs543304 |
Exac | rs543304 |
Gnomad | rs543304 |
Varsome | rs543304 |
LitVar | rs543304 |
Map | rs543304 |
PheGenI | rs543304 |
Biobank | rs543304 |
1000 genomes | rs543304 |
hgdp | rs543304 |
ensembl | rs543304 |
geneview | rs543304 |
scholar | rs543304 |
rs543304 | |
pharmgkb | rs543304 |
gwascentral | rs543304 |
openSNP | rs543304 |
23andMe | rs543304 |
SNPshot | rs543304 |
SNPdbe | rs543304 |
MSV3d | rs543304 |
GWAS Ctlg | rs543304 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
Benign BRCA2 SNP.
ClinVar | |
---|---|
Risk | rs543304(C;C) rs543304(G;G) |
Alt | rs543304(C;C) rs543304(G;G) |
Reference | Rs543304(T;T) |
Significance | Non-pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified Hereditary breast and ovarian cancer syndrome Fanconi anemia Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast and ovarian cancer syndrome Fanconi anemia Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32912299T>C; NC_000013.10:g.32912299T>G |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000113220.4, RCV000130362.2, RCV000152874.5, RCV000316398.2, RCV000354795.1, RCV000476701.1, RCV000113221.1, |