rs748876625
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs748876625(C;G) |
Make rs748876625(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 43104122 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs748876625 |
dbSNP (classic) | rs748876625 |
ClinGen | rs748876625 |
ebi | rs748876625 |
HLI | rs748876625 |
Exac | rs748876625 |
Gnomad | rs748876625 |
Varsome | rs748876625 |
LitVar | rs748876625 |
Map | rs748876625 |
PheGenI | rs748876625 |
Biobank | rs748876625 |
1000 genomes | rs748876625 |
hgdp | rs748876625 |
ensembl | rs748876625 |
geneview | rs748876625 |
scholar | rs748876625 |
rs748876625 | |
pharmgkb | rs748876625 |
gwascentral | rs748876625 |
openSNP | rs748876625 |
23andMe | rs748876625 |
SNPshot | rs748876625 |
SNPdbe | rs748876625 |
MSV3d | rs748876625 |
GWAS Ctlg | rs748876625 |
Max Magnitude | 0 |
aka c.441G>T (p.Leu147Phe or L147F), or, c.441G>C
Both are annotated as of uncertain significance wrt breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs748876625(G;G) |
Alt | rs748876625(G;G) |
Reference | Rs748876625(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.41256139C>G |
CLNSRC | |
CLNACC | RCV000204808.1, RCV000210978.1, RCV000221620.1, |