rs145988146
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 |
(C;T) | 1 | benign |
Make rs145988146(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32319282 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs145988146 |
dbSNP (classic) | rs145988146 |
ClinGen | rs145988146 |
ebi | rs145988146 |
HLI | rs145988146 |
Exac | rs145988146 |
Gnomad | rs145988146 |
Varsome | rs145988146 |
LitVar | rs145988146 |
Map | rs145988146 |
PheGenI | rs145988146 |
Biobank | rs145988146 |
1000 genomes | rs145988146 |
hgdp | rs145988146 |
ensembl | rs145988146 |
geneview | rs145988146 |
scholar | rs145988146 |
rs145988146 | |
pharmgkb | rs145988146 |
gwascentral | rs145988146 |
openSNP | rs145988146 |
23andMe | rs145988146 |
SNPshot | rs145988146 |
SNPdbe | rs145988146 |
MSV3d | rs145988146 |
GWAS Ctlg | rs145988146 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs145988146(A;A) rs145988146(G;G) rs145988146(T;T) |
Alt | rs145988146(A;A) rs145988146(G;G) rs145988146(T;T) |
Reference | Rs145988146(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified |
Reversed | 0 |
HGVS | NC_000013.10:g.32893419C>A; NC_000013.10:g.32893419C>G; NC_000013.10:g.32893419C>T |
CLNSRC | ClinVar |
CLNACC | RCV000044045.2, RCV000241355.2, RCV000044046.2, RCV000257002.2, RCV000164459.1, RCV000204240.3, RCV000444330.1, |