rs587780240
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | Ovarian cancer susceptibility |
Make rs587780240(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 61715948 |
Gene | BRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs587780240 |
dbSNP (classic) | rs587780240 |
ClinGen | rs587780240 |
ebi | rs587780240 |
HLI | rs587780240 |
Exac | rs587780240 |
Gnomad | rs587780240 |
Varsome | rs587780240 |
LitVar | rs587780240 |
Map | rs587780240 |
PheGenI | rs587780240 |
Biobank | rs587780240 |
1000 genomes | rs587780240 |
hgdp | rs587780240 |
ensembl | rs587780240 |
geneview | rs587780240 |
scholar | rs587780240 |
rs587780240 | |
pharmgkb | rs587780240 |
gwascentral | rs587780240 |
openSNP | rs587780240 |
23andMe | rs587780240 |
SNPshot | rs587780240 |
SNPdbe | rs587780240 |
MSV3d | rs587780240 |
GWAS Ctlg | rs587780240 |
Max Magnitude | 6 |
Mentioned as a pathogenic/likely pathogenic mutation associated with cancer predisposition in [PMID 26681312]
ClinVar | |
---|---|
Risk | rs587780240(T;T) |
Alt | rs587780240(T;T) |
Reference | Rs587780240(-;-) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia not provided |
Variation | info |
Gene | BRIP1 |
CLNDBN | Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia, complementation group J not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.59793310dupA |
CLNSRC | |
CLNACC | RCV000116143.6, RCV000205157.2, RCV000258968.2, |