rs730881611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;GCAT) | 6 | Possible miscall in Ancestry v2c data; otherwise, BRCA2 variant considered pathogenic for breast cancer |
Make rs730881611(GCAT;GCAT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32340625 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881611 |
dbSNP (classic) | rs730881611 |
ClinGen | rs730881611 |
ebi | rs730881611 |
HLI | rs730881611 |
Exac | rs730881611 |
Gnomad | rs730881611 |
Varsome | rs730881611 |
LitVar | rs730881611 |
Map | rs730881611 |
PheGenI | rs730881611 |
Biobank | rs730881611 |
1000 genomes | rs730881611 |
hgdp | rs730881611 |
ensembl | rs730881611 |
geneview | rs730881611 |
scholar | rs730881611 |
rs730881611 | |
pharmgkb | rs730881611 |
gwascentral | rs730881611 |
openSNP | rs730881611 |
23andMe | rs730881611 |
SNPshot | rs730881611 |
SNPdbe | rs730881611 |
MSV3d | rs730881611 |
GWAS Ctlg | rs730881611 |
Max Magnitude | 6 |
Also known as c.6267_6270dupGCAT (p.Ser2091delinsAlaTer)
ClinVar | |
---|---|
Risk | rs730881611(GCAT;GCAT) |
Alt | rs730881611(GCAT;GCAT) |
Reference | Rs730881611(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32914759_32914762dupGCAT |
CLNSRC | |
CLNACC | RCV000160299.1, RCV000241240.1, |