rs80357107
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80357107(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43045757 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357107 |
dbSNP (classic) | rs80357107 |
ClinGen | rs80357107 |
ebi | rs80357107 |
HLI | rs80357107 |
Exac | rs80357107 |
Gnomad | rs80357107 |
Varsome | rs80357107 |
LitVar | rs80357107 |
Map | rs80357107 |
PheGenI | rs80357107 |
Biobank | rs80357107 |
1000 genomes | rs80357107 |
hgdp | rs80357107 |
ensembl | rs80357107 |
geneview | rs80357107 |
scholar | rs80357107 |
rs80357107 | |
pharmgkb | rs80357107 |
gwascentral | rs80357107 |
openSNP | rs80357107 |
23andMe | rs80357107 |
SNPshot | rs80357107 |
SNPdbe | rs80357107 |
MSV3d | rs80357107 |
GWAS Ctlg | rs80357107 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80357107(A;A) rs80357107(G;G) |
Alt | rs80357107(A;A) rs80357107(G;G) |
Reference | Rs80357107(T;T) |
Significance | Other |
Disease | Breast-ovarian cancer Familial cancer of breast not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41197774A>C; NC_000017.10:g.41197774A>T |
CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation |
CLNACC | RCV000241502.1, RCV000049032.2, RCV000077628.4, RCV000480633.1, |