rs80356929
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80356929(A;A) |
Make rs80356929(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43124044 |
Gene | BRCA1, NBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs80356929 |
dbSNP (classic) | rs80356929 |
ClinGen | rs80356929 |
ebi | rs80356929 |
HLI | rs80356929 |
Exac | rs80356929 |
Gnomad | rs80356929 |
Varsome | rs80356929 |
LitVar | rs80356929 |
Map | rs80356929 |
PheGenI | rs80356929 |
Biobank | rs80356929 |
1000 genomes | rs80356929 |
hgdp | rs80356929 |
ensembl | rs80356929 |
geneview | rs80356929 |
scholar | rs80356929 |
rs80356929 | |
pharmgkb | rs80356929 |
gwascentral | rs80356929 |
openSNP | rs80356929 |
23andMe | rs80356929 |
SNPshot | rs80356929 |
SNPdbe | rs80356929 |
MSV3d | rs80356929 |
GWAS Ctlg | rs80356929 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs80356929(A;A) rs80356929(C;C) |
Alt | rs80356929(A;A) rs80356929(C;C) |
Reference | Rs80356929(T;T) |
Significance | Other |
Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | NBR2 BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41276061A>G; NC_000017.10:g.41276061A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000031245.5, RCV000048972.4, RCV000131693.3, RCV000212154.1, RCV000048971.2, RCV000111654.1, |