rs730882165
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs730882165(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43067684 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs730882165 |
dbSNP (classic) | rs730882165 |
ClinGen | rs730882165 |
ebi | rs730882165 |
HLI | rs730882165 |
Exac | rs730882165 |
Gnomad | rs730882165 |
Varsome | rs730882165 |
LitVar | rs730882165 |
Map | rs730882165 |
PheGenI | rs730882165 |
Biobank | rs730882165 |
1000 genomes | rs730882165 |
hgdp | rs730882165 |
ensembl | rs730882165 |
geneview | rs730882165 |
scholar | rs730882165 |
rs730882165 | |
pharmgkb | rs730882165 |
gwascentral | rs730882165 |
openSNP | rs730882165 |
23andMe | rs730882165 |
SNPshot | rs730882165 |
SNPdbe | rs730882165 |
MSV3d | rs730882165 |
GWAS Ctlg | rs730882165 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730882165(A;A) rs730882165(G;G) rs730882165(T;T) |
Alt | rs730882165(A;A) rs730882165(G;G) rs730882165(T;T) |
Reference | Rs730882165(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41219701G>A; NC_000017.10:g.41219701G>T |
CLNSRC | |
CLNACC | RCV000166868.1, RCV000162047.2, RCV000214326.1, |