rs863224439
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | Likely a pathogenic variant for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs863224439(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 32316529 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224439 |
dbSNP (classic) | rs863224439 |
ClinGen | rs863224439 |
ebi | rs863224439 |
HLI | rs863224439 |
Exac | rs863224439 |
Gnomad | rs863224439 |
Varsome | rs863224439 |
LitVar | rs863224439 |
Map | rs863224439 |
PheGenI | rs863224439 |
Biobank | rs863224439 |
1000 genomes | rs863224439 |
hgdp | rs863224439 |
ensembl | rs863224439 |
geneview | rs863224439 |
scholar | rs863224439 |
rs863224439 | |
pharmgkb | rs863224439 |
gwascentral | rs863224439 |
openSNP | rs863224439 |
23andMe | rs863224439 |
SNPshot | rs863224439 |
SNPdbe | rs863224439 |
MSV3d | rs863224439 |
GWAS Ctlg | rs863224439 |
Max Magnitude | 6 |
aka c.67+2del
Considered by one ClinVar submitter (as of 2019) to be a variant likely pathogenic for breast cancer
ClinVar | |
---|---|
Risk | rs863224439(-;-) |
Alt | rs863224439(-;-) |
Reference | Rs863224439(T;T) |
Significance | Probable-Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32890666delT |
CLNSRC | |
CLNACC | RCV000195654.1, |