rs80358163
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | Normal |
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80358163(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43104968 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358163 |
dbSNP (classic) | rs80358163 |
ClinGen | rs80358163 |
ebi | rs80358163 |
HLI | rs80358163 |
Exac | rs80358163 |
Gnomad | rs80358163 |
Varsome | rs80358163 |
LitVar | rs80358163 |
Map | rs80358163 |
PheGenI | rs80358163 |
Biobank | rs80358163 |
1000 genomes | rs80358163 |
hgdp | rs80358163 |
ensembl | rs80358163 |
geneview | rs80358163 |
scholar | rs80358163 |
rs80358163 | |
pharmgkb | rs80358163 |
gwascentral | rs80358163 |
openSNP | rs80358163 |
23andMe | rs80358163 |
SNPshot | rs80358163 |
SNPdbe | rs80358163 |
MSV3d | rs80358163 |
GWAS Ctlg | rs80358163 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80358163(G;G) |
Alt | rs80358163(G;G) |
Reference | Rs80358163(A;A) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41256985T>C |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031031.7, RCV000047726.6, RCV000131900.2, RCV000167772.5, |