rs730881619
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;ATTT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs730881619(ATTT;ATTT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 32398407 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs730881619 |
dbSNP (classic) | rs730881619 |
ClinGen | rs730881619 |
ebi | rs730881619 |
HLI | rs730881619 |
Exac | rs730881619 |
Gnomad | rs730881619 |
Varsome | rs730881619 |
LitVar | rs730881619 |
Map | rs730881619 |
PheGenI | rs730881619 |
Biobank | rs730881619 |
1000 genomes | rs730881619 |
hgdp | rs730881619 |
ensembl | rs730881619 |
geneview | rs730881619 |
scholar | rs730881619 |
rs730881619 | |
pharmgkb | rs730881619 |
gwascentral | rs730881619 |
openSNP | rs730881619 |
23andMe | rs730881619 |
SNPshot | rs730881619 |
SNPdbe | rs730881619 |
MSV3d | rs730881619 |
GWAS Ctlg | rs730881619 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730881619(ATTT;ATTT) |
Alt | rs730881619(ATTT;ATTT) |
Reference | Rs730881619(-;-) |
Significance | Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32972541_32972544dupATTT |
CLNSRC | |
CLNACC | RCV000160313.1, RCV000222723.1, RCV000241133.1, RCV000470171.1, |