rs786204264
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs786204264(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 43093232 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204264 |
dbSNP (classic) | rs786204264 |
ClinGen | rs786204264 |
ebi | rs786204264 |
HLI | rs786204264 |
Exac | rs786204264 |
Gnomad | rs786204264 |
Varsome | rs786204264 |
LitVar | rs786204264 |
Map | rs786204264 |
PheGenI | rs786204264 |
Biobank | rs786204264 |
1000 genomes | rs786204264 |
hgdp | rs786204264 |
ensembl | rs786204264 |
geneview | rs786204264 |
scholar | rs786204264 |
rs786204264 | |
pharmgkb | rs786204264 |
gwascentral | rs786204264 |
openSNP | rs786204264 |
23andMe | rs786204264 |
SNPshot | rs786204264 |
SNPdbe | rs786204264 |
MSV3d | rs786204264 |
GWAS Ctlg | rs786204264 |
Max Magnitude | 6 |
aka c.787+1511dup
ClinVar | |
---|---|
Risk | rs786204264(T;T) |
Alt | rs786204264(T;T) |
Reference | Rs786204264(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41245250dupA |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000168495.4, RCV000257900.2, |