rs864622132
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs864622132(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 43071204 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs864622132 |
dbSNP (classic) | rs864622132 |
ClinGen | rs864622132 |
ebi | rs864622132 |
HLI | rs864622132 |
Exac | rs864622132 |
Gnomad | rs864622132 |
Varsome | rs864622132 |
LitVar | rs864622132 |
Map | rs864622132 |
PheGenI | rs864622132 |
Biobank | rs864622132 |
1000 genomes | rs864622132 |
hgdp | rs864622132 |
ensembl | rs864622132 |
geneview | rs864622132 |
scholar | rs864622132 |
rs864622132 | |
pharmgkb | rs864622132 |
gwascentral | rs864622132 |
openSNP | rs864622132 |
23andMe | rs864622132 |
SNPshot | rs864622132 |
SNPdbe | rs864622132 |
MSV3d | rs864622132 |
GWAS Ctlg | rs864622132 |
Max Magnitude | 6 |
aka c.4709dupT
ClinVar | |
---|---|
Risk | rs864622132(T;T) |
Alt | rs864622132(T;T) |
Reference | Rs864622132(-;-) |
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.41223222dupA |
CLNSRC | |
CLNACC | RCV000203737.1, RCV000241489.1, |