rs690016538
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs690016538(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32331024 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs690016538 |
dbSNP (classic) | rs690016538 |
ClinGen | rs690016538 |
ebi | rs690016538 |
HLI | rs690016538 |
Exac | rs690016538 |
Gnomad | rs690016538 |
Varsome | rs690016538 |
LitVar | rs690016538 |
Map | rs690016538 |
PheGenI | rs690016538 |
Biobank | rs690016538 |
1000 genomes | rs690016538 |
hgdp | rs690016538 |
ensembl | rs690016538 |
geneview | rs690016538 |
scholar | rs690016538 |
rs690016538 | |
pharmgkb | rs690016538 |
gwascentral | rs690016538 |
openSNP | rs690016538 |
23andMe | rs690016538 |
SNPshot | rs690016538 |
SNPdbe | rs690016538 |
MSV3d | rs690016538 |
GWAS Ctlg | rs690016538 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs690016538(A;A) |
Alt | rs690016538(A;A) |
Reference | Rs690016538(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32905161dupA |
CLNSRC | VariO |
CLNACC | RCV000149511.1, RCV000241045.1, |