rs80357327
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80357327(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43115730 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357327 |
dbSNP (classic) | rs80357327 |
ClinGen | rs80357327 |
ebi | rs80357327 |
HLI | rs80357327 |
Exac | rs80357327 |
Gnomad | rs80357327 |
Varsome | rs80357327 |
LitVar | rs80357327 |
Map | rs80357327 |
PheGenI | rs80357327 |
Biobank | rs80357327 |
1000 genomes | rs80357327 |
hgdp | rs80357327 |
ensembl | rs80357327 |
geneview | rs80357327 |
scholar | rs80357327 |
rs80357327 | |
pharmgkb | rs80357327 |
gwascentral | rs80357327 |
openSNP | rs80357327 |
23andMe | rs80357327 |
SNPshot | rs80357327 |
SNPdbe | rs80357327 |
MSV3d | rs80357327 |
GWAS Ctlg | rs80357327 |
Max Magnitude | 6 |
23andMe name: i6008306
ClinVar | |
---|---|
Risk | rs80357327(A;A) rs80357327(C;C) rs80357327(G;G) |
Alt | rs80357327(A;A) rs80357327(C;C) rs80357327(G;G) |
Reference | Rs80357327(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41267747A>C; NC_000017.10:g.41267747A>G; NC_000017.10:g.41267747A>T |
CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation |
CLNACC | RCV000047411.2, RCV000047410.2, RCV000047409.2, RCV000111838.2, RCV000222092.1, RCV000444956.1, |