rs139052578
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs139052578(A;A) |
Make rs139052578(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 13 |
Position | 32379503 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs139052578 |
dbSNP (classic) | rs139052578 |
ClinGen | rs139052578 |
ebi | rs139052578 |
HLI | rs139052578 |
Exac | rs139052578 |
Gnomad | rs139052578 |
Varsome | rs139052578 |
LitVar | rs139052578 |
Map | rs139052578 |
PheGenI | rs139052578 |
Biobank | rs139052578 |
1000 genomes | rs139052578 |
hgdp | rs139052578 |
ensembl | rs139052578 |
geneview | rs139052578 |
scholar | rs139052578 |
rs139052578 | |
pharmgkb | rs139052578 |
gwascentral | rs139052578 |
openSNP | rs139052578 |
23andMe | rs139052578 |
SNPshot | rs139052578 |
SNPdbe | rs139052578 |
MSV3d | rs139052578 |
GWAS Ctlg | rs139052578 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs139052578(A;A) rs139052578(T;T) |
Alt | rs139052578(A;A) rs139052578(T;T) |
Reference | Rs139052578(G;G) |
Significance | Pathogenic |
Disease | not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | not provided Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32953640G>A; NC_000013.10:g.32953640G>T |
CLNSRC | |
CLNACC | RCV000034470.1, RCV000045661.4, RCV000130691.3, RCV000212283.2, RCV000257646.2, |