rs398122752
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AGGAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AGGAA;AGGAA) | 0 | common in clinvar |
(GAAAG;GAAAG) | 0 | common in clinvar |
Make rs398122752(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32337047 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122752 |
dbSNP (classic) | rs398122752 |
ClinGen | rs398122752 |
ebi | rs398122752 |
HLI | rs398122752 |
Exac | rs398122752 |
Gnomad | rs398122752 |
Varsome | rs398122752 |
LitVar | rs398122752 |
Map | rs398122752 |
PheGenI | rs398122752 |
Biobank | rs398122752 |
1000 genomes | rs398122752 |
hgdp | rs398122752 |
ensembl | rs398122752 |
geneview | rs398122752 |
scholar | rs398122752 |
rs398122752 | |
pharmgkb | rs398122752 |
gwascentral | rs398122752 |
openSNP | rs398122752 |
23andMe | rs398122752 |
SNPshot | rs398122752 |
SNPdbe | rs398122752 |
MSV3d | rs398122752 |
GWAS Ctlg | rs398122752 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs398122752(-;-) |
Alt | rs398122752(-;-) |
Reference | Rs398122752(GAAAG;GAAAG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32911184_32911188delAGGAA |
CLNSRC | ClinVar |
CLNACC | RCV000077692.3, RCV000160272.1, |