rs80358124
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs80358124(A;C) |
Make rs80358124(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43063871 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358124 |
dbSNP (classic) | rs80358124 |
ClinGen | rs80358124 |
ebi | rs80358124 |
HLI | rs80358124 |
Exac | rs80358124 |
Gnomad | rs80358124 |
Varsome | rs80358124 |
LitVar | rs80358124 |
Map | rs80358124 |
PheGenI | rs80358124 |
Biobank | rs80358124 |
1000 genomes | rs80358124 |
hgdp | rs80358124 |
ensembl | rs80358124 |
geneview | rs80358124 |
scholar | rs80358124 |
rs80358124 | |
pharmgkb | rs80358124 |
gwascentral | rs80358124 |
openSNP | rs80358124 |
23andMe | rs80358124 |
SNPshot | rs80358124 |
SNPdbe | rs80358124 |
MSV3d | rs80358124 |
GWAS Ctlg | rs80358124 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358124(C;C) |
Alt | rs80358124(C;C) |
Reference | Rs80358124(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.41215888T>G |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048822.2, RCV000112517.1, |