rs762635795
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs762635795(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43104217 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs762635795 |
dbSNP (classic) | rs762635795 |
ClinGen | rs762635795 |
ebi | rs762635795 |
HLI | rs762635795 |
Exac | rs762635795 |
Gnomad | rs762635795 |
Varsome | rs762635795 |
LitVar | rs762635795 |
Map | rs762635795 |
PheGenI | rs762635795 |
Biobank | rs762635795 |
1000 genomes | rs762635795 |
hgdp | rs762635795 |
ensembl | rs762635795 |
geneview | rs762635795 |
scholar | rs762635795 |
rs762635795 | |
pharmgkb | rs762635795 |
gwascentral | rs762635795 |
openSNP | rs762635795 |
23andMe | rs762635795 |
SNPshot | rs762635795 |
SNPdbe | rs762635795 |
MSV3d | rs762635795 |
GWAS Ctlg | rs762635795 |
Max Magnitude | 6 |
aka c.205del
ClinVar | |
---|---|
Risk | rs762635795(-;-) |
Alt | rs762635795(-;-) |
Reference | Rs762635795(C;C) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.41256234delC |
CLNSRC | |
CLNACC | RCV000238656.2, |