rs80358015
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 5 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80358015(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43091432 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358015 |
dbSNP (classic) | rs80358015 |
ClinGen | rs80358015 |
ebi | rs80358015 |
HLI | rs80358015 |
Exac | rs80358015 |
Gnomad | rs80358015 |
Varsome | rs80358015 |
LitVar | rs80358015 |
Map | rs80358015 |
PheGenI | rs80358015 |
Biobank | rs80358015 |
1000 genomes | rs80358015 |
hgdp | rs80358015 |
ensembl | rs80358015 |
geneview | rs80358015 |
scholar | rs80358015 |
rs80358015 | |
pharmgkb | rs80358015 |
gwascentral | rs80358015 |
openSNP | rs80358015 |
23andMe | rs80358015 |
SNPshot | rs80358015 |
SNPdbe | rs80358015 |
MSV3d | rs80358015 |
GWAS Ctlg | rs80358015 |
Max Magnitude | 5 |
c.4096+3A>G
considered pathogenic for breast cancer in ClinVar
ClinVar | |
---|---|
Risk | rs80358015(G;G) |
Alt | rs80358015(G;G) |
Reference | Rs80358015(A;A) |
Significance | Other |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41243449T>C |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031147.6, RCV000048442.4, RCV000164655.2, RCV000481455.1, |