rs397507941
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs397507941(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32362573 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs397507941 |
dbSNP (classic) | rs397507941 |
ClinGen | rs397507941 |
ebi | rs397507941 |
HLI | rs397507941 |
Exac | rs397507941 |
Gnomad | rs397507941 |
Varsome | rs397507941 |
LitVar | rs397507941 |
Map | rs397507941 |
PheGenI | rs397507941 |
Biobank | rs397507941 |
1000 genomes | rs397507941 |
hgdp | rs397507941 |
ensembl | rs397507941 |
geneview | rs397507941 |
scholar | rs397507941 |
rs397507941 | |
pharmgkb | rs397507941 |
gwascentral | rs397507941 |
openSNP | rs397507941 |
23andMe | rs397507941 |
SNPshot | rs397507941 |
SNPdbe | rs397507941 |
MSV3d | rs397507941 |
GWAS Ctlg | rs397507941 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs397507941(A;A) rs397507941(C;C) |
Alt | rs397507941(A;A) rs397507941(C;C) |
Reference | Rs397507941(G;G) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32936710G>A; NC_000013.10:g.32936710G>C |
CLNSRC | ClinVar |
CLNACC | RCV000045330.4, RCV000241188.2, RCV000077012.2, |