rs775537066
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | Ovarian cancer susceptibility |
Make rs775537066(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 61776487 |
Gene | BRIP1 |
is a | snp |
is | mentioned by |
dbSNP | rs775537066 |
dbSNP (classic) | rs775537066 |
ClinGen | rs775537066 |
ebi | rs775537066 |
HLI | rs775537066 |
Exac | rs775537066 |
Gnomad | rs775537066 |
Varsome | rs775537066 |
LitVar | rs775537066 |
Map | rs775537066 |
PheGenI | rs775537066 |
Biobank | rs775537066 |
1000 genomes | rs775537066 |
hgdp | rs775537066 |
ensembl | rs775537066 |
geneview | rs775537066 |
scholar | rs775537066 |
rs775537066 | |
pharmgkb | rs775537066 |
gwascentral | rs775537066 |
openSNP | rs775537066 |
23andMe | rs775537066 |
SNPshot | rs775537066 |
SNPdbe | rs775537066 |
MSV3d | rs775537066 |
GWAS Ctlg | rs775537066 |
Max Magnitude | 6 |
aka c.2010dupT (p.Glu671Terfs)
ClinVar | |
---|---|
Risk | rs775537066(A;A) |
Alt | rs775537066(A;A) |
Reference | Rs775537066(-;-) |
Significance | 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 | 0 |
HGVS | NC_000017.10:g.59853849dupA |
CLNSRC | |
CLNACC | RCV000167209.2, RCV000205261.3, RCV000484507.1, |