rs863224510
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs863224510(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43093487 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224510 |
dbSNP (classic) | rs863224510 |
ClinGen | rs863224510 |
ebi | rs863224510 |
HLI | rs863224510 |
Exac | rs863224510 |
Gnomad | rs863224510 |
Varsome | rs863224510 |
LitVar | rs863224510 |
Map | rs863224510 |
PheGenI | rs863224510 |
Biobank | rs863224510 |
1000 genomes | rs863224510 |
hgdp | rs863224510 |
ensembl | rs863224510 |
geneview | rs863224510 |
scholar | rs863224510 |
rs863224510 | |
pharmgkb | rs863224510 |
gwascentral | rs863224510 |
openSNP | rs863224510 |
23andMe | rs863224510 |
SNPshot | rs863224510 |
SNPdbe | rs863224510 |
MSV3d | rs863224510 |
GWAS Ctlg | rs863224510 |
Max Magnitude | 6 |
aka c.2043dupT (p.Asn682Terfs)
ClinVar | |
---|---|
Risk | rs863224510(T;T) |
Alt | rs863224510(T;T) |
Reference | Rs863224510(-;-) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41245505dupA |
CLNSRC | |
CLNACC | RCV000198736.2, RCV000238610.3, |