rs587781516
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TTTT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs587781516(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32341057 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs587781516 |
dbSNP (classic) | rs587781516 |
ClinGen | rs587781516 |
ebi | rs587781516 |
HLI | rs587781516 |
Exac | rs587781516 |
Gnomad | rs587781516 |
Varsome | rs587781516 |
LitVar | rs587781516 |
Map | rs587781516 |
PheGenI | rs587781516 |
Biobank | rs587781516 |
1000 genomes | rs587781516 |
hgdp | rs587781516 |
ensembl | rs587781516 |
geneview | rs587781516 |
scholar | rs587781516 |
rs587781516 | |
pharmgkb | rs587781516 |
gwascentral | rs587781516 |
openSNP | rs587781516 |
23andMe | rs587781516 |
SNPshot | rs587781516 |
SNPdbe | rs587781516 |
MSV3d | rs587781516 |
GWAS Ctlg | rs587781516 |
Max Magnitude | 6 |
aka c.6699_6702dupTTTT and also c.6702delT; both are considered pathogenic for breast cancer in ClinVar
ClinVar | |
---|---|
Risk | rs587781516(-;-) |
Alt | rs587781516(-;-) |
Reference | Rs587781516(T;T) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32915194delT |
CLNSRC | |
CLNACC | RCV000129499.2, RCV000241445.1, |