rs80358344
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GTT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(GTT;GTT) | 0 | common in clinvar |
Make rs80358344(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43067618 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80358344 |
dbSNP (classic) | rs80358344 |
ClinGen | rs80358344 |
ebi | rs80358344 |
HLI | rs80358344 |
Exac | rs80358344 |
Gnomad | rs80358344 |
Varsome | rs80358344 |
LitVar | rs80358344 |
Map | rs80358344 |
PheGenI | rs80358344 |
Biobank | rs80358344 |
1000 genomes | rs80358344 |
hgdp | rs80358344 |
ensembl | rs80358344 |
geneview | rs80358344 |
scholar | rs80358344 |
rs80358344 | |
pharmgkb | rs80358344 |
gwascentral | rs80358344 |
openSNP | rs80358344 |
23andMe | rs80358344 |
SNPshot | rs80358344 |
SNPdbe | rs80358344 |
MSV3d | rs80358344 |
GWAS Ctlg | rs80358344 |
Max Magnitude | 6 |
aka c.5059_5061delGTT
ClinVar | |
---|---|
Risk | rs80358344(-;-) |
Alt | rs80358344(-;-) |
Reference | Rs80358344(GTT;GTT) |
Significance | Other |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41219635_41219637delAAC |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000048753.3, RCV000112479.1, RCV000130452.3, RCV000235533.1, |