rs879255281
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs879255281(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43093113 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs879255281 |
dbSNP (classic) | rs879255281 |
ClinGen | rs879255281 |
ebi | rs879255281 |
HLI | rs879255281 |
Exac | rs879255281 |
Gnomad | rs879255281 |
Varsome | rs879255281 |
LitVar | rs879255281 |
Map | rs879255281 |
PheGenI | rs879255281 |
Biobank | rs879255281 |
1000 genomes | rs879255281 |
hgdp | rs879255281 |
ensembl | rs879255281 |
geneview | rs879255281 |
scholar | rs879255281 |
rs879255281 | |
pharmgkb | rs879255281 |
gwascentral | rs879255281 |
openSNP | rs879255281 |
23andMe | rs879255281 |
SNPshot | rs879255281 |
SNPdbe | rs879255281 |
MSV3d | rs879255281 |
GWAS Ctlg | rs879255281 |
Max Magnitude | 6 |
aka c.2418delA (p.Ala807Hisfs)
23andMe name: i701112
ClinVar | |
---|---|
Risk | rs879255281(-;-) |
Alt | rs879255281(-;-) |
Reference | Rs879255281(A;A) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41245130delT |
CLNSRC | |
CLNACC | RCV000239128.2, |