rs4942440
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs4942440(A;A) |
Make rs4942440(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32344830 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs4942440 |
dbSNP (classic) | rs4942440 |
ClinGen | rs4942440 |
ebi | rs4942440 |
HLI | rs4942440 |
Exac | rs4942440 |
Gnomad | rs4942440 |
Varsome | rs4942440 |
LitVar | rs4942440 |
Map | rs4942440 |
PheGenI | rs4942440 |
Biobank | rs4942440 |
1000 genomes | rs4942440 |
hgdp | rs4942440 |
ensembl | rs4942440 |
geneview | rs4942440 |
scholar | rs4942440 |
rs4942440 | |
pharmgkb | rs4942440 |
gwascentral | rs4942440 |
openSNP | rs4942440 |
23andMe | rs4942440 |
SNPshot | rs4942440 |
SNPdbe | rs4942440 |
MSV3d | rs4942440 |
GWAS Ctlg | rs4942440 |
GMAF | 0.1956 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 22513257] Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
ClinVar | |
---|---|
Risk | rs4942440(A;A) |
Alt | rs4942440(A;A) |
Reference | Rs4942440(G;G) |
Significance | Non-pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32918967G>A |
CLNSRC | |
CLNACC | RCV000191653.1, |