rs149330893
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs149330893(C;T) |
Make rs149330893(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 32340783 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs149330893 |
dbSNP (classic) | rs149330893 |
ClinGen | rs149330893 |
ebi | rs149330893 |
HLI | rs149330893 |
Exac | rs149330893 |
Gnomad | rs149330893 |
Varsome | rs149330893 |
LitVar | rs149330893 |
Map | rs149330893 |
PheGenI | rs149330893 |
Biobank | rs149330893 |
1000 genomes | rs149330893 |
hgdp | rs149330893 |
ensembl | rs149330893 |
geneview | rs149330893 |
scholar | rs149330893 |
rs149330893 | |
pharmgkb | rs149330893 |
gwascentral | rs149330893 |
openSNP | rs149330893 |
23andMe | rs149330893 |
SNPshot | rs149330893 |
SNPdbe | rs149330893 |
MSV3d | rs149330893 |
GWAS Ctlg | rs149330893 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs149330893(A;A) rs149330893(G;G) rs149330893(T;T) |
Alt | rs149330893(A;A) rs149330893(G;G) rs149330893(T;T) |
Reference | Rs149330893(C;C) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32914920C>A; NC_000013.10:g.32914920C>G; NC_000013.10:g.32914920C>T |
CLNSRC | |
CLNACC | RCV000230879.1, RCV000241501.1, RCV000257829.2, RCV000130744.2, |