rs879255282
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;CCCT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs879255282(CCCT;CCCT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43076579 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs879255282 |
dbSNP (classic) | rs879255282 |
ClinGen | rs879255282 |
ebi | rs879255282 |
HLI | rs879255282 |
Exac | rs879255282 |
Gnomad | rs879255282 |
Varsome | rs879255282 |
LitVar | rs879255282 |
Map | rs879255282 |
PheGenI | rs879255282 |
Biobank | rs879255282 |
1000 genomes | rs879255282 |
hgdp | rs879255282 |
ensembl | rs879255282 |
geneview | rs879255282 |
scholar | rs879255282 |
rs879255282 | |
pharmgkb | rs879255282 |
gwascentral | rs879255282 |
openSNP | rs879255282 |
23andMe | rs879255282 |
SNPshot | rs879255282 |
SNPdbe | rs879255282 |
MSV3d | rs879255282 |
GWAS Ctlg | rs879255282 |
Max Magnitude | 6 |
aka c.4389_4392dupCCCT (p.Ile1465Profs)
23andMe name: i702455
ClinVar | |
---|---|
Risk | rs879255282(CCCT;CCCT) |
Alt | rs879255282(CCCT;CCCT) |
Reference | Rs879255282(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41228597_41228600dupAGGG |
CLNSRC | |
CLNACC | RCV000239092.1, |