rs80356925
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | Normal |
(C;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80356925(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092928 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356925 |
dbSNP (classic) | rs80356925 |
ClinGen | rs80356925 |
ebi | rs80356925 |
HLI | rs80356925 |
Exac | rs80356925 |
Gnomad | rs80356925 |
Varsome | rs80356925 |
LitVar | rs80356925 |
Map | rs80356925 |
PheGenI | rs80356925 |
Biobank | rs80356925 |
1000 genomes | rs80356925 |
hgdp | rs80356925 |
ensembl | rs80356925 |
geneview | rs80356925 |
scholar | rs80356925 |
rs80356925 | |
pharmgkb | rs80356925 |
gwascentral | rs80356925 |
openSNP | rs80356925 |
23andMe | rs80356925 |
SNPshot | rs80356925 |
SNPdbe | rs80356925 |
MSV3d | rs80356925 |
GWAS Ctlg | rs80356925 |
Max Magnitude | 6 |
rs80356925, also known as S868X, c.2603C>G and p.Ser868Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i6008289
ClinVar | |
---|---|
Risk | rs80356925(A;A) rs80356925(G;G) |
Alt | rs80356925(A;A) rs80356925(G;G) |
Reference | Rs80356925(C;C) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41244945G>C; NC_000017.10:g.41244945G>T |
CLNSRC | ClinVar |
CLNACC | RCV000031058.6, RCV000047897.4, RCV000162858.2, RCV000235126.2, RCV000047896.2, |