rs864622277
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6 | Ovarian cancer susceptibility |
(G;G) | 0 | common in clinvar |
Make rs864622277(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 61847221 |
Gene | BRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs864622277 |
dbSNP (classic) | rs864622277 |
ClinGen | rs864622277 |
ebi | rs864622277 |
HLI | rs864622277 |
Exac | rs864622277 |
Gnomad | rs864622277 |
Varsome | rs864622277 |
LitVar | rs864622277 |
Map | rs864622277 |
PheGenI | rs864622277 |
Biobank | rs864622277 |
1000 genomes | rs864622277 |
hgdp | rs864622277 |
ensembl | rs864622277 |
geneview | rs864622277 |
scholar | rs864622277 |
rs864622277 | |
pharmgkb | rs864622277 |
gwascentral | rs864622277 |
openSNP | rs864622277 |
23andMe | rs864622277 |
SNPshot | rs864622277 |
SNPdbe | rs864622277 |
MSV3d | rs864622277 |
GWAS Ctlg | rs864622277 |
Max Magnitude | 6 |
aka c.508-1G>C
Considered likely pathogenic in ClinVar for hereditary cancer (breast)
23andMe name: i709076
ClinVar | |
---|---|
Risk | rs864622277(C;C) |
Alt | rs864622277(C;C) |
Reference | Rs864622277(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRIP1 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.59924582C>G |
CLNSRC | |
CLNACC | RCV000203783.1, RCV000449088.1, |