rs4986854
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | |
(T;T) | 0 | common in clinvar |
Make rs4986854(C;C) |
Make rs4986854(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43071031 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs4986854 |
dbSNP (classic) | rs4986854 |
ClinGen | rs4986854 |
ebi | rs4986854 |
HLI | rs4986854 |
Exac | rs4986854 |
Gnomad | rs4986854 |
Varsome | rs4986854 |
LitVar | rs4986854 |
Map | rs4986854 |
PheGenI | rs4986854 |
Biobank | rs4986854 |
1000 genomes | rs4986854 |
hgdp | rs4986854 |
ensembl | rs4986854 |
geneview | rs4986854 |
scholar | rs4986854 |
rs4986854 | |
pharmgkb | rs4986854 |
gwascentral | rs4986854 |
openSNP | rs4986854 |
23andMe | rs4986854 |
SNPshot | rs4986854 |
SNPdbe | rs4986854 |
MSV3d | rs4986854 |
GWAS Ctlg | rs4986854 |
GMAF | 0.004132 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs4986854(C;C) |
Alt | rs4986854(C;C) |
Reference | Rs4986854(T;T) |
Significance | Other |
Disease | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not specified Neoplasm of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | not provided Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not specified Neoplasm of breast Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41223048A>G |
CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein) |
CLNACC | RCV000034754.3, RCV000048683.7, RCV000112415.4, RCV000120263.3, RCV000148381.1, RCV000162565.1, |