rs398122553
From SNPedia
Merged into | rs80359575 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
(GA;GA) | 0 | common in clinvar |
Make rs398122553(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32329446 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122553 |
dbSNP (classic) | rs398122553 |
ClinGen | rs398122553 |
ebi | rs398122553 |
HLI | rs398122553 |
Exac | rs398122553 |
Gnomad | rs398122553 |
Varsome | rs398122553 |
LitVar | rs398122553 |
Map | rs398122553 |
PheGenI | rs398122553 |
Biobank | rs398122553 |
1000 genomes | rs398122553 |
hgdp | rs398122553 |
ensembl | rs398122553 |
geneview | rs398122553 |
scholar | rs398122553 |
rs398122553 | |
pharmgkb | rs398122553 |
gwascentral | rs398122553 |
openSNP | rs398122553 |
23andMe | rs398122553 |
SNPshot | rs398122553 |
SNPdbe | rs398122553 |
MSV3d | rs398122553 |
GWAS Ctlg | rs398122553 |
Status | Merged into rs80359575 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs398122553(AG;AG) |
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.32903583_32903584delGA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044920.2, RCV000076962.5, |