rs80358066
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 3 | BRCA1 variant of unclear significance |
Make rs80358066(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43063953 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358066 |
dbSNP (classic) | rs80358066 |
ClinGen | rs80358066 |
ebi | rs80358066 |
HLI | rs80358066 |
Exac | rs80358066 |
Gnomad | rs80358066 |
Varsome | rs80358066 |
LitVar | rs80358066 |
Map | rs80358066 |
PheGenI | rs80358066 |
Biobank | rs80358066 |
1000 genomes | rs80358066 |
hgdp | rs80358066 |
ensembl | rs80358066 |
geneview | rs80358066 |
scholar | rs80358066 |
rs80358066 | |
pharmgkb | rs80358066 |
gwascentral | rs80358066 |
openSNP | rs80358066 |
23andMe | rs80358066 |
SNPshot | rs80358066 |
SNPdbe | rs80358066 |
MSV3d | rs80358066 |
GWAS Ctlg | rs80358066 |
Max Magnitude | 3 |
c.5075-2A>C
clinical significance unclear
ClinVar | |
---|---|
Risk | rs80358066(C;C) rs80358066(G;G) rs80358066(T;T) |
Alt | rs80358066(C;C) rs80358066(G;G) rs80358066(T;T) |
Reference | Rs80358066(A;A) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41215970T>A; NC_000017.10:g.41215970T>C; NC_000017.10:g.41215970T>G |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048773.2, RCV000112488.1, RCV000238796.1, RCV000048772.2, RCV000112487.1, |