rs754611265
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | Likely miscall in Ancestry v2c & v2d data; otherwise, BRCA2 variant considered pathogenic for breast cancer |
Make rs754611265(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32346886 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs754611265 |
dbSNP (classic) | rs754611265 |
ClinGen | rs754611265 |
ebi | rs754611265 |
HLI | rs754611265 |
Exac | rs754611265 |
Gnomad | rs754611265 |
Varsome | rs754611265 |
LitVar | rs754611265 |
Map | rs754611265 |
PheGenI | rs754611265 |
Biobank | rs754611265 |
1000 genomes | rs754611265 |
hgdp | rs754611265 |
ensembl | rs754611265 |
geneview | rs754611265 |
scholar | rs754611265 |
rs754611265 | |
pharmgkb | rs754611265 |
gwascentral | rs754611265 |
openSNP | rs754611265 |
23andMe | rs754611265 |
SNPshot | rs754611265 |
SNPdbe | rs754611265 |
MSV3d | rs754611265 |
GWAS Ctlg | rs754611265 |
Max Magnitude | 6 |
aka c.6998dupT (p.Pro2334Thrfs)
ClinVar | |
---|---|
Risk | rs754611265(T;T) |
Alt | rs754611265(T;T) |
Reference | Rs754611265(-;-) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32921024dupT |
CLNSRC | |
CLNACC | RCV000204770.2, RCV000241320.2, RCV000466284.1, |