rs864622401
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs864622401(TG;TG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32339096 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs864622401 |
dbSNP (classic) | rs864622401 |
ClinGen | rs864622401 |
ebi | rs864622401 |
HLI | rs864622401 |
Exac | rs864622401 |
Gnomad | rs864622401 |
Varsome | rs864622401 |
LitVar | rs864622401 |
Map | rs864622401 |
PheGenI | rs864622401 |
Biobank | rs864622401 |
1000 genomes | rs864622401 |
hgdp | rs864622401 |
ensembl | rs864622401 |
geneview | rs864622401 |
scholar | rs864622401 |
rs864622401 | |
pharmgkb | rs864622401 |
gwascentral | rs864622401 |
openSNP | rs864622401 |
23andMe | rs864622401 |
SNPshot | rs864622401 |
SNPdbe | rs864622401 |
MSV3d | rs864622401 |
GWAS Ctlg | rs864622401 |
Max Magnitude | 6 |
aka c.4738_4739dupTG
ClinVar | |
---|---|
Risk | rs864622401(TG;TG) |
Alt | rs864622401(TG;TG) |
Reference | Rs864622401(-;-) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Neoplasm of breast Familial cancer of breast not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Neoplasm of breast Familial cancer of breast not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32913232_32913233dupTG |
CLNSRC | |
CLNACC | RCV000206526.3, RCV000241010.2, RCV000413237.1, RCV000476565.1, RCV000483210.1, |