rs80357498
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | Normal |
(G;T) | 3.3 | BRCA1 variant possibly pathogenic for breast cancer, but significance unclear |
Make rs80357498(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43115744 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357498 |
dbSNP (classic) | rs80357498 |
ClinGen | rs80357498 |
ebi | rs80357498 |
HLI | rs80357498 |
Exac | rs80357498 |
Gnomad | rs80357498 |
Varsome | rs80357498 |
LitVar | rs80357498 |
Map | rs80357498 |
PheGenI | rs80357498 |
Biobank | rs80357498 |
1000 genomes | rs80357498 |
hgdp | rs80357498 |
ensembl | rs80357498 |
geneview | rs80357498 |
scholar | rs80357498 |
rs80357498 | |
pharmgkb | rs80357498 |
gwascentral | rs80357498 |
openSNP | rs80357498 |
23andMe | rs80357498 |
SNPshot | rs80357498 |
SNPdbe | rs80357498 |
MSV3d | rs80357498 |
GWAS Ctlg | rs80357498 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80357498(A;A) rs80357498(T;T) |
Alt | rs80357498(A;A) rs80357498(T;T) |
Reference | Rs80357498(G;G) |
Significance | Other |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41267761C>A; NC_000017.10:g.41267761C>T |
CLNSRC | ClinVar |
CLNACC | RCV000030974.3, RCV000206829.1, RCV000030973.5, RCV000047370.2, RCV000222558.1, RCV000235619.1, |