rs730881440
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(CA;CA) | 0 | common in clinvar |
Make rs730881440(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43091763 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs730881440 |
dbSNP (classic) | rs730881440 |
ClinGen | rs730881440 |
ebi | rs730881440 |
HLI | rs730881440 |
Exac | rs730881440 |
Gnomad | rs730881440 |
Varsome | rs730881440 |
LitVar | rs730881440 |
Map | rs730881440 |
PheGenI | rs730881440 |
Biobank | rs730881440 |
1000 genomes | rs730881440 |
hgdp | rs730881440 |
ensembl | rs730881440 |
geneview | rs730881440 |
scholar | rs730881440 |
rs730881440 | |
pharmgkb | rs730881440 |
gwascentral | rs730881440 |
openSNP | rs730881440 |
23andMe | rs730881440 |
SNPshot | rs730881440 |
SNPdbe | rs730881440 |
MSV3d | rs730881440 |
GWAS Ctlg | rs730881440 |
Max Magnitude | 6 |
aka c.788-732_788-731del
ClinVar | |
---|---|
Risk | rs730881440(-;-) |
Alt | rs730881440(-;-) |
Reference | Rs730881440(CA;CA) |
Significance | Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41243780_41243781delTG |
CLNSRC | |
CLNACC | RCV000159844.1, RCV000221128.1, RCV000225507.2, |