rs398122546
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AACA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AACA;AACA) | 0 | common in clinvar |
Make rs398122546(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340414 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs398122546 |
dbSNP (classic) | rs398122546 |
ClinGen | rs398122546 |
ebi | rs398122546 |
HLI | rs398122546 |
Exac | rs398122546 |
Gnomad | rs398122546 |
Varsome | rs398122546 |
LitVar | rs398122546 |
Map | rs398122546 |
PheGenI | rs398122546 |
Biobank | rs398122546 |
1000 genomes | rs398122546 |
hgdp | rs398122546 |
ensembl | rs398122546 |
geneview | rs398122546 |
scholar | rs398122546 |
rs398122546 | |
pharmgkb | rs398122546 |
gwascentral | rs398122546 |
openSNP | rs398122546 |
23andMe | rs398122546 |
SNPshot | rs398122546 |
SNPdbe | rs398122546 |
MSV3d | rs398122546 |
GWAS Ctlg | rs398122546 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs398122546(-;-) |
Alt | rs398122546(-;-) |
Reference | Rs398122546(AACA;AACA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32914551_32914554delAACA |
CLNSRC | ClinVar |
CLNACC | RCV000076952.4, |