rs80358178
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | Normal |
Make rs80358178(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43091434 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358178 |
dbSNP (classic) | rs80358178 |
ClinGen | rs80358178 |
ebi | rs80358178 |
HLI | rs80358178 |
Exac | rs80358178 |
Gnomad | rs80358178 |
Varsome | rs80358178 |
LitVar | rs80358178 |
Map | rs80358178 |
PheGenI | rs80358178 |
Biobank | rs80358178 |
1000 genomes | rs80358178 |
hgdp | rs80358178 |
ensembl | rs80358178 |
geneview | rs80358178 |
scholar | rs80358178 |
rs80358178 | |
pharmgkb | rs80358178 |
gwascentral | rs80358178 |
openSNP | rs80358178 |
23andMe | rs80358178 |
SNPshot | rs80358178 |
SNPdbe | rs80358178 |
MSV3d | rs80358178 |
GWAS Ctlg | rs80358178 |
Max Magnitude | 6 |
aka c.4096+1G>A
ClinVar | |
---|---|
Risk | rs80358178(A;A) |
Alt | rs80358178(A;A) |
Reference | Rs80358178(G;G) |
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.41243451C>T |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031146.4, RCV000048441.6, RCV000162871.2, RCV000195364.3, |